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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs757392692

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:45938295 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
A>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000004 (1/248758, GnomAD_exome)
C=0.000008 (1/120960, ExAC)
G=0.005 (1/216, Qatari)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PHF21A : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 248758 A=0.999996 C=0.000004
gnomAD - Exomes European Sub 135194 A=1.000000 C=0.000000
gnomAD - Exomes Asian Sub 48102 A=1.00000 C=0.00000
gnomAD - Exomes American Sub 33152 A=0.99997 C=0.00003
gnomAD - Exomes African Sub 16232 A=1.00000 C=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10062 A=1.00000 C=0.00000
gnomAD - Exomes Other Sub 6016 A=1.0000 C=0.0000
ExAC Global Study-wide 120960 A=0.999992 C=0.000008
ExAC Europe Sub 73208 A=1.00000 C=0.00000
ExAC Asian Sub 24898 A=1.00000 C=0.00000
ExAC American Sub 11566 A=0.99991 C=0.00009
ExAC African Sub 10380 A=1.00000 C=0.00000
ExAC Other Sub 908 A=1.000 C=0.000
Qatari Global Study-wide 216 A=0.995 G=0.005
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 11 NC_000011.10:g.45938295A>C
GRCh38.p14 chr 11 NC_000011.10:g.45938295A>G
GRCh38.p14 chr 11 NC_000011.10:g.45938295A>T
GRCh37.p13 chr 11 NC_000011.9:g.45959846A>C
GRCh37.p13 chr 11 NC_000011.9:g.45959846A>G
GRCh37.p13 chr 11 NC_000011.9:g.45959846A>T
Gene: PHF21A, PHD finger protein 21A (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PHF21A transcript variant 7 NM_001352029.1:c.1329T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform b NP_001338958.1:p.Asp443Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant 7 NM_001352029.1:c.1329T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform b NP_001338958.1:p.Asp443= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant 7 NM_001352029.1:c.1329T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform b NP_001338958.1:p.Asp443Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant 6 NM_001352028.1:c.1329T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform b NP_001338957.1:p.Asp443Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant 6 NM_001352028.1:c.1329T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform b NP_001338957.1:p.Asp443= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant 6 NM_001352028.1:c.1329T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform b NP_001338957.1:p.Asp443Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant 2 NM_016621.5:c.1329T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform b NP_057705.3:p.Asp443Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant 2 NM_016621.5:c.1329T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform b NP_057705.3:p.Asp443= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant 2 NM_016621.5:c.1329T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform b NP_057705.3:p.Asp443Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant 1 NM_001101802.3:c.1467T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform a NP_001095272.1:p.Asp489Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant 1 NM_001101802.3:c.1467T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform a NP_001095272.1:p.Asp489= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant 1 NM_001101802.3:c.1467T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform a NP_001095272.1:p.Asp489Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant 9 NM_001352031.3:c.1326T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform d NP_001338960.1:p.Asp442Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant 9 NM_001352031.3:c.1326T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform d NP_001338960.1:p.Asp442= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant 9 NM_001352031.3:c.1326T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform d NP_001338960.1:p.Asp442Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant 10 NM_001352032.3:c.1326T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform d NP_001338961.1:p.Asp442Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant 10 NM_001352032.3:c.1326T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform d NP_001338961.1:p.Asp442= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant 10 NM_001352032.3:c.1326T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform d NP_001338961.1:p.Asp442Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant 5 NM_001352027.3:c.1470T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform c NP_001338956.1:p.Asp490Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant 5 NM_001352027.3:c.1470T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform c NP_001338956.1:p.Asp490= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant 5 NM_001352027.3:c.1470T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform c NP_001338956.1:p.Asp490Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant 8 NM_001352030.3:c.1326T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform 8 NP_001338959.1:p.Asp442Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant 8 NM_001352030.3:c.1326T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform 8 NP_001338959.1:p.Asp442= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant 8 NM_001352030.3:c.1326T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform 8 NP_001338959.1:p.Asp442Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant 4 NM_001352026.3:c.1470T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform c NP_001338955.1:p.Asp490Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant 4 NM_001352026.3:c.1470T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform c NP_001338955.1:p.Asp490= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant 4 NM_001352026.3:c.1470T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform c NP_001338955.1:p.Asp490Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant 3 NM_001352025.3:c.1470T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform c NP_001338954.1:p.Asp490Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant 3 NM_001352025.3:c.1470T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform c NP_001338954.1:p.Asp490= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant 3 NM_001352025.3:c.1470T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform c NP_001338954.1:p.Asp490Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant 11 NR_147890.3:n.1973T>G N/A Non Coding Transcript Variant
PHF21A transcript variant 11 NR_147890.3:n.1973T>C N/A Non Coding Transcript Variant
PHF21A transcript variant 11 NR_147890.3:n.1973T>A N/A Non Coding Transcript Variant
PHF21A transcript variant 12 NR_165446.1:n.2209T>G N/A Non Coding Transcript Variant
PHF21A transcript variant 12 NR_165446.1:n.2209T>C N/A Non Coding Transcript Variant
PHF21A transcript variant 12 NR_165446.1:n.2209T>A N/A Non Coding Transcript Variant
PHF21A transcript variant X29 XM_047427099.1:c.1474-172…

XM_047427099.1:c.1474-1726T>G

N/A Intron Variant
PHF21A transcript variant X35 XM_047427104.1:c.1453-172…

XM_047427104.1:c.1453-1726T>G

N/A Intron Variant
PHF21A transcript variant X36 XM_047427105.1:c.1453-172…

XM_047427105.1:c.1453-1726T>G

N/A Intron Variant
PHF21A transcript variant X37 XM_047427107.1:c.1450-172…

XM_047427107.1:c.1450-1726T>G

N/A Intron Variant
PHF21A transcript variant X38 XM_047427108.1:c.1450-172…

XM_047427108.1:c.1450-1726T>G

N/A Intron Variant
PHF21A transcript variant X39 XM_047427109.1:c.1450-172…

XM_047427109.1:c.1450-1726T>G

N/A Intron Variant
PHF21A transcript variant X40 XM_047427110.1:c.1450-172…

XM_047427110.1:c.1450-1726T>G

N/A Intron Variant
PHF21A transcript variant X1 XM_011520157.3:c.1491T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform X1 XP_011518459.1:p.Asp497Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X1 XM_011520157.3:c.1491T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform X1 XP_011518459.1:p.Asp497= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant X1 XM_011520157.3:c.1491T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform X1 XP_011518459.1:p.Asp497Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X2 XM_017017887.3:c.1491T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform X1 XP_016873376.1:p.Asp497Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X2 XM_017017887.3:c.1491T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform X1 XP_016873376.1:p.Asp497= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant X2 XM_017017887.3:c.1491T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform X1 XP_016873376.1:p.Asp497Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X3 XM_011520158.3:c.1491T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform X1 XP_011518460.1:p.Asp497Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X3 XM_011520158.3:c.1491T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform X1 XP_011518460.1:p.Asp497= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant X3 XM_011520158.3:c.1491T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform X1 XP_011518460.1:p.Asp497Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X4 XM_047427079.1:c.1491T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform X1 XP_047283035.1:p.Asp497Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X4 XM_047427079.1:c.1491T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform X1 XP_047283035.1:p.Asp497= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant X4 XM_047427079.1:c.1491T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform X1 XP_047283035.1:p.Asp497Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X5 XM_047427080.1:c.1491T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform X1 XP_047283036.1:p.Asp497Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X5 XM_047427080.1:c.1491T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform X1 XP_047283036.1:p.Asp497= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant X5 XM_047427080.1:c.1491T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform X1 XP_047283036.1:p.Asp497Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X6 XM_017017889.2:c.1488T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform X2 XP_016873378.1:p.Asp496Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X6 XM_017017889.2:c.1488T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform X2 XP_016873378.1:p.Asp496= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant X6 XM_017017889.2:c.1488T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform X2 XP_016873378.1:p.Asp496Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X7 XM_047427081.1:c.1488T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform X2 XP_047283037.1:p.Asp496Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X7 XM_047427081.1:c.1488T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform X2 XP_047283037.1:p.Asp496= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant X7 XM_047427081.1:c.1488T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform X2 XP_047283037.1:p.Asp496Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X8 XM_047427082.1:c.1488T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform X3 XP_047283038.1:p.Asp496Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X8 XM_047427082.1:c.1488T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform X3 XP_047283038.1:p.Asp496= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant X8 XM_047427082.1:c.1488T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform X3 XP_047283038.1:p.Asp496Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X9 XM_047427083.1:c.1485T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform X4 XP_047283039.1:p.Asp495Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X9 XM_047427083.1:c.1485T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform X4 XP_047283039.1:p.Asp495= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant X9 XM_047427083.1:c.1485T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform X4 XP_047283039.1:p.Asp495Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X10 XM_011520174.3:c.1470T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform X5 XP_011518476.1:p.Asp490Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X10 XM_011520174.3:c.1470T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform X5 XP_011518476.1:p.Asp490= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant X10 XM_011520174.3:c.1470T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform X5 XP_011518476.1:p.Asp490Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X11 XM_005252965.5:c.1470T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform X5 XP_005253022.1:p.Asp490Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X11 XM_005252965.5:c.1470T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform X5 XP_005253022.1:p.Asp490= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant X11 XM_005252965.5:c.1470T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform X5 XP_005253022.1:p.Asp490Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X12 XM_047427084.1:c.1470T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform X5 XP_047283040.1:p.Asp490Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X12 XM_047427084.1:c.1470T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform X5 XP_047283040.1:p.Asp490= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant X12 XM_047427084.1:c.1470T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform X5 XP_047283040.1:p.Asp490Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X13 XM_017017892.2:c.1467T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform X6 XP_016873381.1:p.Asp489Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X13 XM_017017892.2:c.1467T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform X6 XP_016873381.1:p.Asp489= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant X13 XM_017017892.2:c.1467T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform X6 XP_016873381.1:p.Asp489Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X14 XM_017017891.2:c.1467T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform X7 XP_016873380.1:p.Asp489Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X14 XM_017017891.2:c.1467T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform X7 XP_016873380.1:p.Asp489= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant X14 XM_017017891.2:c.1467T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform X7 XP_016873380.1:p.Asp489Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X15 XM_047427085.1:c.1467T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform X6 XP_047283041.1:p.Asp489Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X15 XM_047427085.1:c.1467T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform X6 XP_047283041.1:p.Asp489= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant X15 XM_047427085.1:c.1467T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform X6 XP_047283041.1:p.Asp489Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X16 XM_047427086.1:c.1467T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform X7 XP_047283042.1:p.Asp489Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X16 XM_047427086.1:c.1467T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform X7 XP_047283042.1:p.Asp489= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant X16 XM_047427086.1:c.1467T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform X7 XP_047283042.1:p.Asp489Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X17 XM_047427087.1:c.1467T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform X6 XP_047283043.1:p.Asp489Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X17 XM_047427087.1:c.1467T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform X6 XP_047283043.1:p.Asp489= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant X17 XM_047427087.1:c.1467T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform X6 XP_047283043.1:p.Asp489Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X18 XM_047427088.1:c.1467T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform X6 XP_047283044.1:p.Asp489Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X18 XM_047427088.1:c.1467T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform X6 XP_047283044.1:p.Asp489= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant X18 XM_047427088.1:c.1467T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform X6 XP_047283044.1:p.Asp489Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X19 XM_047427089.1:c.1467T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform X7 XP_047283045.1:p.Asp489Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X19 XM_047427089.1:c.1467T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform X7 XP_047283045.1:p.Asp489= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant X19 XM_047427089.1:c.1467T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform X7 XP_047283045.1:p.Asp489Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X20 XM_011520175.3:c.1467T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform X6 XP_011518477.1:p.Asp489Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X20 XM_011520175.3:c.1467T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform X6 XP_011518477.1:p.Asp489= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant X20 XM_011520175.3:c.1467T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform X6 XP_011518477.1:p.Asp489Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X21 XM_047427090.1:c.1464T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform X8 XP_047283046.1:p.Asp488Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X21 XM_047427090.1:c.1464T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform X8 XP_047283046.1:p.Asp488= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant X21 XM_047427090.1:c.1464T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform X8 XP_047283046.1:p.Asp488Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X22 XM_047427091.1:c.1464T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform X8 XP_047283047.1:p.Asp488Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X22 XM_047427091.1:c.1464T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform X8 XP_047283047.1:p.Asp488= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant X22 XM_047427091.1:c.1464T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform X8 XP_047283047.1:p.Asp488Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X23 XM_047427092.1:c.1470T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform X9 XP_047283048.1:p.Asp490Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X23 XM_047427092.1:c.1470T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform X9 XP_047283048.1:p.Asp490= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant X23 XM_047427092.1:c.1470T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform X9 XP_047283048.1:p.Asp490Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X24 XM_047427093.1:c.1470T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform X9 XP_047283049.1:p.Asp490Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X24 XM_047427093.1:c.1470T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform X9 XP_047283049.1:p.Asp490= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant X24 XM_047427093.1:c.1470T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform X9 XP_047283049.1:p.Asp490Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X25 XM_047427094.1:c.1470T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform X9 XP_047283050.1:p.Asp490Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X25 XM_047427094.1:c.1470T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform X9 XP_047283050.1:p.Asp490= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant X25 XM_047427094.1:c.1470T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform X9 XP_047283050.1:p.Asp490Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X26 XM_047427095.1:c.1350T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform X10 XP_047283051.1:p.Asp450Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X26 XM_047427095.1:c.1350T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform X10 XP_047283051.1:p.Asp450= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant X26 XM_047427095.1:c.1350T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform X10 XP_047283051.1:p.Asp450Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X27 XM_047427097.1:c.1347T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform X11 XP_047283053.1:p.Asp449Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X27 XM_047427097.1:c.1347T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform X11 XP_047283053.1:p.Asp449= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant X27 XM_047427097.1:c.1347T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform X11 XP_047283053.1:p.Asp449Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X28 XM_047427098.1:c.1347T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform X12 XP_047283054.1:p.Asp449Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X28 XM_047427098.1:c.1347T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform X12 XP_047283054.1:p.Asp449= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant X28 XM_047427098.1:c.1347T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform X12 XP_047283054.1:p.Asp449Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X30 XM_011520179.4:c.1329T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform X14 XP_011518481.1:p.Asp443Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X30 XM_011520179.4:c.1329T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform X14 XP_011518481.1:p.Asp443= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant X30 XM_011520179.4:c.1329T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform X14 XP_011518481.1:p.Asp443Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X31 XM_047427100.1:c.1329T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform X14 XP_047283056.1:p.Asp443Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X31 XM_047427100.1:c.1329T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform X14 XP_047283056.1:p.Asp443= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant X31 XM_047427100.1:c.1329T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform X14 XP_047283056.1:p.Asp443Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X32 XM_047427101.1:c.1329T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform X14 XP_047283057.1:p.Asp443Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X32 XM_047427101.1:c.1329T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform X14 XP_047283057.1:p.Asp443= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant X32 XM_047427101.1:c.1329T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform X14 XP_047283057.1:p.Asp443Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X33 XM_047427102.1:c.1326T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform X15 XP_047283058.1:p.Asp442Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X33 XM_047427102.1:c.1326T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform X15 XP_047283058.1:p.Asp442= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant X33 XM_047427102.1:c.1326T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform X15 XP_047283058.1:p.Asp442Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X34 XM_047427103.1:c.1323T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform X16 XP_047283059.1:p.Asp441Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X34 XM_047427103.1:c.1323T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform X16 XP_047283059.1:p.Asp441= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant X34 XM_047427103.1:c.1323T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform X16 XP_047283059.1:p.Asp441Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X41 XM_047427111.1:c.1491T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform X20 XP_047283067.1:p.Asp497Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X41 XM_047427111.1:c.1491T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform X20 XP_047283067.1:p.Asp497= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant X41 XM_047427111.1:c.1491T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform X20 XP_047283067.1:p.Asp497Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X42 XM_047427113.1:c.1467T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform X21 XP_047283069.1:p.Asp489Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X42 XM_047427113.1:c.1467T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform X21 XP_047283069.1:p.Asp489= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant X42 XM_047427113.1:c.1467T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform X21 XP_047283069.1:p.Asp489Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X43 XM_017017907.2:c.1218T>G D [GAT] > E [GAG] Coding Sequence Variant
PHD finger protein 21A isoform X22 XP_016873396.1:p.Asp406Glu D (Asp) > E (Glu) Missense Variant
PHF21A transcript variant X43 XM_017017907.2:c.1218T>C D [GAT] > D [GAC] Coding Sequence Variant
PHD finger protein 21A isoform X22 XP_016873396.1:p.Asp406= D (Asp) > D (Asp) Synonymous Variant
PHF21A transcript variant X43 XM_017017907.2:c.1218T>A D [GAT] > E [GAA] Coding Sequence Variant
PHD finger protein 21A isoform X22 XP_016873396.1:p.Asp406Glu D (Asp) > E (Glu) Missense Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement A= C G T
GRCh38.p14 chr 11 NC_000011.10:g.45938295= NC_000011.10:g.45938295A>C NC_000011.10:g.45938295A>G NC_000011.10:g.45938295A>T
GRCh37.p13 chr 11 NC_000011.9:g.45959846= NC_000011.9:g.45959846A>C NC_000011.9:g.45959846A>G NC_000011.9:g.45959846A>T
PHF21A transcript variant 2 NM_016621.5:c.1329= NM_016621.5:c.1329T>G NM_016621.5:c.1329T>C NM_016621.5:c.1329T>A
PHF21A transcript variant 2 NM_016621.4:c.1329= NM_016621.4:c.1329T>G NM_016621.4:c.1329T>C NM_016621.4:c.1329T>A
PHF21A transcript variant 2 NM_016621.3:c.1329= NM_016621.3:c.1329T>G NM_016621.3:c.1329T>C NM_016621.3:c.1329T>A
PHF21A transcript variant X11 XM_005252965.5:c.1470= XM_005252965.5:c.1470T>G XM_005252965.5:c.1470T>C XM_005252965.5:c.1470T>A
PHF21A transcript variant X21 XM_005252965.4:c.1470= XM_005252965.4:c.1470T>G XM_005252965.4:c.1470T>C XM_005252965.4:c.1470T>A
PHF21A transcript variant X20 XM_005252965.3:c.1470= XM_005252965.3:c.1470T>G XM_005252965.3:c.1470T>C XM_005252965.3:c.1470T>A
PHF21A transcript variant X4 XM_005252965.2:c.1470= XM_005252965.2:c.1470T>G XM_005252965.2:c.1470T>C XM_005252965.2:c.1470T>A
PHF21A transcript variant X4 XM_005252965.1:c.1470= XM_005252965.1:c.1470T>G XM_005252965.1:c.1470T>C XM_005252965.1:c.1470T>A
PHF21A transcript variant X30 XM_011520179.4:c.1329= XM_011520179.4:c.1329T>G XM_011520179.4:c.1329T>C XM_011520179.4:c.1329T>A
PHF21A transcript variant X34 XM_011520179.3:c.1329= XM_011520179.3:c.1329T>G XM_011520179.3:c.1329T>C XM_011520179.3:c.1329T>A
PHF21A transcript variant X33 XM_011520179.2:c.1329= XM_011520179.2:c.1329T>G XM_011520179.2:c.1329T>C XM_011520179.2:c.1329T>A
PHF21A transcript variant X26 XM_011520179.1:c.1329= XM_011520179.1:c.1329T>G XM_011520179.1:c.1329T>C XM_011520179.1:c.1329T>A
PHF21A transcript variant 3 NM_001352025.3:c.1470= NM_001352025.3:c.1470T>G NM_001352025.3:c.1470T>C NM_001352025.3:c.1470T>A
PHF21A transcript variant 3 NM_001352025.2:c.1470= NM_001352025.2:c.1470T>G NM_001352025.2:c.1470T>C NM_001352025.2:c.1470T>A
PHF21A transcript variant 3 NM_001352025.1:c.1470= NM_001352025.1:c.1470T>G NM_001352025.1:c.1470T>C NM_001352025.1:c.1470T>A
PHF21A transcript variant X3 XM_011520158.3:c.1491= XM_011520158.3:c.1491T>G XM_011520158.3:c.1491T>C XM_011520158.3:c.1491T>A
PHF21A transcript variant X1 XM_011520158.2:c.1491= XM_011520158.2:c.1491T>G XM_011520158.2:c.1491T>C XM_011520158.2:c.1491T>A
PHF21A transcript variant X2 XM_011520158.1:c.1491= XM_011520158.1:c.1491T>G XM_011520158.1:c.1491T>C XM_011520158.1:c.1491T>A
PHF21A transcript variant 5 NM_001352027.3:c.1470= NM_001352027.3:c.1470T>G NM_001352027.3:c.1470T>C NM_001352027.3:c.1470T>A
PHF21A transcript variant 5 NM_001352027.2:c.1470= NM_001352027.2:c.1470T>G NM_001352027.2:c.1470T>C NM_001352027.2:c.1470T>A
PHF21A transcript variant 5 NM_001352027.1:c.1470= NM_001352027.1:c.1470T>G NM_001352027.1:c.1470T>C NM_001352027.1:c.1470T>A
PHF21A transcript variant 10 NM_001352032.3:c.1326= NM_001352032.3:c.1326T>G NM_001352032.3:c.1326T>C NM_001352032.3:c.1326T>A
PHF21A transcript variant 10 NM_001352032.2:c.1326= NM_001352032.2:c.1326T>G NM_001352032.2:c.1326T>C NM_001352032.2:c.1326T>A
PHF21A transcript variant 10 NM_001352032.1:c.1326= NM_001352032.1:c.1326T>G NM_001352032.1:c.1326T>C NM_001352032.1:c.1326T>A
PHF21A transcript variant X1 XM_011520157.3:c.1491= XM_011520157.3:c.1491T>G XM_011520157.3:c.1491T>C XM_011520157.3:c.1491T>A
PHF21A transcript variant X8 XM_011520157.2:c.1491= XM_011520157.2:c.1491T>G XM_011520157.2:c.1491T>C XM_011520157.2:c.1491T>A
PHF21A transcript variant X1 XM_011520157.1:c.1491= XM_011520157.1:c.1491T>G XM_011520157.1:c.1491T>C XM_011520157.1:c.1491T>A
PHF21A transcript variant 4 NM_001352026.3:c.1470= NM_001352026.3:c.1470T>G NM_001352026.3:c.1470T>C NM_001352026.3:c.1470T>A
PHF21A transcript variant 4 NM_001352026.2:c.1470= NM_001352026.2:c.1470T>G NM_001352026.2:c.1470T>C NM_001352026.2:c.1470T>A
PHF21A transcript variant 4 NM_001352026.1:c.1470= NM_001352026.1:c.1470T>G NM_001352026.1:c.1470T>C NM_001352026.1:c.1470T>A
PHF21A transcript variant 1 NM_001101802.3:c.1467= NM_001101802.3:c.1467T>G NM_001101802.3:c.1467T>C NM_001101802.3:c.1467T>A
PHF21A transcript variant 1 NM_001101802.2:c.1467= NM_001101802.2:c.1467T>G NM_001101802.2:c.1467T>C NM_001101802.2:c.1467T>A
PHF21A transcript variant 1 NM_001101802.1:c.1467= NM_001101802.1:c.1467T>G NM_001101802.1:c.1467T>C NM_001101802.1:c.1467T>A
PHF21A transcript variant 11 NR_147890.3:n.1973= NR_147890.3:n.1973T>G NR_147890.3:n.1973T>C NR_147890.3:n.1973T>A
PHF21A transcript NR_147890.2:n.1504= NR_147890.2:n.1504T>G NR_147890.2:n.1504T>C NR_147890.2:n.1504T>A
PHF21A transcript NR_147890.1:n.1953= NR_147890.1:n.1953T>G NR_147890.1:n.1953T>C NR_147890.1:n.1953T>A
PHF21A transcript variant 9 NM_001352031.3:c.1326= NM_001352031.3:c.1326T>G NM_001352031.3:c.1326T>C NM_001352031.3:c.1326T>A
PHF21A transcript variant 9 NM_001352031.2:c.1326= NM_001352031.2:c.1326T>G NM_001352031.2:c.1326T>C NM_001352031.2:c.1326T>A
PHF21A transcript variant 9 NM_001352031.1:c.1326= NM_001352031.1:c.1326T>G NM_001352031.1:c.1326T>C NM_001352031.1:c.1326T>A
PHF21A transcript variant 8 NM_001352030.3:c.1326= NM_001352030.3:c.1326T>G NM_001352030.3:c.1326T>C NM_001352030.3:c.1326T>A
PHF21A transcript variant 8 NM_001352030.2:c.1326= NM_001352030.2:c.1326T>G NM_001352030.2:c.1326T>C NM_001352030.2:c.1326T>A
PHF21A transcript variant 8 NM_001352030.1:c.1326= NM_001352030.1:c.1326T>G NM_001352030.1:c.1326T>C NM_001352030.1:c.1326T>A
PHF21A transcript variant X10 XM_011520174.3:c.1470= XM_011520174.3:c.1470T>G XM_011520174.3:c.1470T>C XM_011520174.3:c.1470T>A
PHF21A transcript variant X17 XM_011520174.2:c.1470= XM_011520174.2:c.1470T>G XM_011520174.2:c.1470T>C XM_011520174.2:c.1470T>A
PHF21A transcript variant X19 XM_011520174.1:c.1470= XM_011520174.1:c.1470T>G XM_011520174.1:c.1470T>C XM_011520174.1:c.1470T>A
PHF21A transcript variant X20 XM_011520175.3:c.1467= XM_011520175.3:c.1467T>G XM_011520175.3:c.1467T>C XM_011520175.3:c.1467T>A
PHF21A transcript variant X24 XM_011520175.2:c.1467= XM_011520175.2:c.1467T>G XM_011520175.2:c.1467T>C XM_011520175.2:c.1467T>A
PHF21A transcript variant X21 XM_011520175.1:c.1467= XM_011520175.1:c.1467T>G XM_011520175.1:c.1467T>C XM_011520175.1:c.1467T>A
PHF21A transcript variant X2 XM_017017887.3:c.1491= XM_017017887.3:c.1491T>G XM_017017887.3:c.1491T>C XM_017017887.3:c.1491T>A
PHF21A transcript variant X13 XM_017017887.2:c.1491= XM_017017887.2:c.1491T>G XM_017017887.2:c.1491T>C XM_017017887.2:c.1491T>A
PHF21A transcript variant X14 XM_017017887.1:c.1491= XM_017017887.1:c.1491T>G XM_017017887.1:c.1491T>C XM_017017887.1:c.1491T>A
PHF21A transcript variant X6 XM_017017889.2:c.1488= XM_017017889.2:c.1488T>G XM_017017889.2:c.1488T>C XM_017017889.2:c.1488T>A
PHF21A transcript variant X15 XM_017017889.1:c.1488= XM_017017889.1:c.1488T>G XM_017017889.1:c.1488T>C XM_017017889.1:c.1488T>A
PHF21A transcript variant X13 XM_017017892.2:c.1467= XM_017017892.2:c.1467T>G XM_017017892.2:c.1467T>C XM_017017892.2:c.1467T>A
PHF21A transcript variant X23 XM_017017892.1:c.1467= XM_017017892.1:c.1467T>G XM_017017892.1:c.1467T>C XM_017017892.1:c.1467T>A
PHF21A transcript variant X14 XM_017017891.2:c.1467= XM_017017891.2:c.1467T>G XM_017017891.2:c.1467T>C XM_017017891.2:c.1467T>A
PHF21A transcript variant X22 XM_017017891.1:c.1467= XM_017017891.1:c.1467T>G XM_017017891.1:c.1467T>C XM_017017891.1:c.1467T>A
PHF21A transcript variant X43 XM_017017907.2:c.1218= XM_017017907.2:c.1218T>G XM_017017907.2:c.1218T>C XM_017017907.2:c.1218T>A
PHF21A transcript variant X41 XM_017017907.1:c.1218= XM_017017907.1:c.1218T>G XM_017017907.1:c.1218T>C XM_017017907.1:c.1218T>A
PHF21A transcript variant X5 XM_047427080.1:c.1491= XM_047427080.1:c.1491T>G XM_047427080.1:c.1491T>C XM_047427080.1:c.1491T>A
PHF21A transcript variant X16 XM_047427086.1:c.1467= XM_047427086.1:c.1467T>G XM_047427086.1:c.1467T>C XM_047427086.1:c.1467T>A
PHF21A transcript variant X4 XM_047427079.1:c.1491= XM_047427079.1:c.1491T>G XM_047427079.1:c.1491T>C XM_047427079.1:c.1491T>A
PHF21A transcript variant X12 XM_047427084.1:c.1470= XM_047427084.1:c.1470T>G XM_047427084.1:c.1470T>C XM_047427084.1:c.1470T>A
PHF21A transcript variant X18 XM_047427088.1:c.1467= XM_047427088.1:c.1467T>G XM_047427088.1:c.1467T>C XM_047427088.1:c.1467T>A
PHF21A transcript variant X23 XM_047427092.1:c.1470= XM_047427092.1:c.1470T>G XM_047427092.1:c.1470T>C XM_047427092.1:c.1470T>A
PHF21A transcript variant X21 XM_047427090.1:c.1464= XM_047427090.1:c.1464T>G XM_047427090.1:c.1464T>C XM_047427090.1:c.1464T>A
PHF21A transcript variant 12 NR_165446.1:n.2209= NR_165446.1:n.2209T>G NR_165446.1:n.2209T>C NR_165446.1:n.2209T>A
PHF21A transcript variant X25 XM_047427094.1:c.1470= XM_047427094.1:c.1470T>G XM_047427094.1:c.1470T>C XM_047427094.1:c.1470T>A
PHF21A transcript variant X8 XM_047427082.1:c.1488= XM_047427082.1:c.1488T>G XM_047427082.1:c.1488T>C XM_047427082.1:c.1488T>A
PHF21A transcript variant X7 XM_047427081.1:c.1488= XM_047427081.1:c.1488T>G XM_047427081.1:c.1488T>C XM_047427081.1:c.1488T>A
PHF21A transcript variant X15 XM_047427085.1:c.1467= XM_047427085.1:c.1467T>G XM_047427085.1:c.1467T>C XM_047427085.1:c.1467T>A
PHF21A transcript variant X22 XM_047427091.1:c.1464= XM_047427091.1:c.1464T>G XM_047427091.1:c.1464T>C XM_047427091.1:c.1464T>A
PHF21A transcript variant X28 XM_047427098.1:c.1347= XM_047427098.1:c.1347T>G XM_047427098.1:c.1347T>C XM_047427098.1:c.1347T>A
PHF21A transcript variant X24 XM_047427093.1:c.1470= XM_047427093.1:c.1470T>G XM_047427093.1:c.1470T>C XM_047427093.1:c.1470T>A
PHF21A transcript variant 7 NM_001352029.1:c.1329= NM_001352029.1:c.1329T>G NM_001352029.1:c.1329T>C NM_001352029.1:c.1329T>A
PHF21A transcript variant X9 XM_047427083.1:c.1485= XM_047427083.1:c.1485T>G XM_047427083.1:c.1485T>C XM_047427083.1:c.1485T>A
PHF21A transcript variant X19 XM_047427089.1:c.1467= XM_047427089.1:c.1467T>G XM_047427089.1:c.1467T>C XM_047427089.1:c.1467T>A
PHF21A transcript variant X17 XM_047427087.1:c.1467= XM_047427087.1:c.1467T>G XM_047427087.1:c.1467T>C XM_047427087.1:c.1467T>A
PHF21A transcript variant X31 XM_047427100.1:c.1329= XM_047427100.1:c.1329T>G XM_047427100.1:c.1329T>C XM_047427100.1:c.1329T>A
PHF21A transcript variant X26 XM_047427095.1:c.1350= XM_047427095.1:c.1350T>G XM_047427095.1:c.1350T>C XM_047427095.1:c.1350T>A
PHF21A transcript variant X27 XM_047427097.1:c.1347= XM_047427097.1:c.1347T>G XM_047427097.1:c.1347T>C XM_047427097.1:c.1347T>A
PHF21A transcript variant X34 XM_047427103.1:c.1323= XM_047427103.1:c.1323T>G XM_047427103.1:c.1323T>C XM_047427103.1:c.1323T>A
PHF21A transcript variant X32 XM_047427101.1:c.1329= XM_047427101.1:c.1329T>G XM_047427101.1:c.1329T>C XM_047427101.1:c.1329T>A
PHF21A transcript variant X33 XM_047427102.1:c.1326= XM_047427102.1:c.1326T>G XM_047427102.1:c.1326T>C XM_047427102.1:c.1326T>A
PHF21A transcript variant 6 NM_001352028.1:c.1329= NM_001352028.1:c.1329T>G NM_001352028.1:c.1329T>C NM_001352028.1:c.1329T>A
PHF21A transcript variant X42 XM_047427113.1:c.1467= XM_047427113.1:c.1467T>G XM_047427113.1:c.1467T>C XM_047427113.1:c.1467T>A
PHF21A transcript variant X41 XM_047427111.1:c.1491= XM_047427111.1:c.1491T>G XM_047427111.1:c.1491T>C XM_047427111.1:c.1491T>A
PHD finger protein 21A isoform b NP_057705.3:p.Asp443= NP_057705.3:p.Asp443Glu NP_057705.3:p.Asp443= NP_057705.3:p.Asp443Glu
PHD finger protein 21A isoform X5 XP_005253022.1:p.Asp490= XP_005253022.1:p.Asp490Glu XP_005253022.1:p.Asp490= XP_005253022.1:p.Asp490Glu
PHD finger protein 21A isoform X14 XP_011518481.1:p.Asp443= XP_011518481.1:p.Asp443Glu XP_011518481.1:p.Asp443= XP_011518481.1:p.Asp443Glu
PHD finger protein 21A isoform c NP_001338954.1:p.Asp490= NP_001338954.1:p.Asp490Glu NP_001338954.1:p.Asp490= NP_001338954.1:p.Asp490Glu
PHD finger protein 21A isoform X1 XP_011518460.1:p.Asp497= XP_011518460.1:p.Asp497Glu XP_011518460.1:p.Asp497= XP_011518460.1:p.Asp497Glu
PHD finger protein 21A isoform c NP_001338956.1:p.Asp490= NP_001338956.1:p.Asp490Glu NP_001338956.1:p.Asp490= NP_001338956.1:p.Asp490Glu
PHD finger protein 21A isoform d NP_001338961.1:p.Asp442= NP_001338961.1:p.Asp442Glu NP_001338961.1:p.Asp442= NP_001338961.1:p.Asp442Glu
PHD finger protein 21A isoform X1 XP_011518459.1:p.Asp497= XP_011518459.1:p.Asp497Glu XP_011518459.1:p.Asp497= XP_011518459.1:p.Asp497Glu
PHD finger protein 21A isoform c NP_001338955.1:p.Asp490= NP_001338955.1:p.Asp490Glu NP_001338955.1:p.Asp490= NP_001338955.1:p.Asp490Glu
PHD finger protein 21A isoform a NP_001095272.1:p.Asp489= NP_001095272.1:p.Asp489Glu NP_001095272.1:p.Asp489= NP_001095272.1:p.Asp489Glu
PHD finger protein 21A isoform d NP_001338960.1:p.Asp442= NP_001338960.1:p.Asp442Glu NP_001338960.1:p.Asp442= NP_001338960.1:p.Asp442Glu
PHD finger protein 21A isoform 8 NP_001338959.1:p.Asp442= NP_001338959.1:p.Asp442Glu NP_001338959.1:p.Asp442= NP_001338959.1:p.Asp442Glu
PHD finger protein 21A isoform X5 XP_011518476.1:p.Asp490= XP_011518476.1:p.Asp490Glu XP_011518476.1:p.Asp490= XP_011518476.1:p.Asp490Glu
PHD finger protein 21A isoform X6 XP_011518477.1:p.Asp489= XP_011518477.1:p.Asp489Glu XP_011518477.1:p.Asp489= XP_011518477.1:p.Asp489Glu
PHD finger protein 21A isoform X1 XP_016873376.1:p.Asp497= XP_016873376.1:p.Asp497Glu XP_016873376.1:p.Asp497= XP_016873376.1:p.Asp497Glu
PHD finger protein 21A isoform X2 XP_016873378.1:p.Asp496= XP_016873378.1:p.Asp496Glu XP_016873378.1:p.Asp496= XP_016873378.1:p.Asp496Glu
PHD finger protein 21A isoform X6 XP_016873381.1:p.Asp489= XP_016873381.1:p.Asp489Glu XP_016873381.1:p.Asp489= XP_016873381.1:p.Asp489Glu
PHD finger protein 21A isoform X7 XP_016873380.1:p.Asp489= XP_016873380.1:p.Asp489Glu XP_016873380.1:p.Asp489= XP_016873380.1:p.Asp489Glu
PHD finger protein 21A isoform X22 XP_016873396.1:p.Asp406= XP_016873396.1:p.Asp406Glu XP_016873396.1:p.Asp406= XP_016873396.1:p.Asp406Glu
PHD finger protein 21A isoform X1 XP_047283036.1:p.Asp497= XP_047283036.1:p.Asp497Glu XP_047283036.1:p.Asp497= XP_047283036.1:p.Asp497Glu
PHD finger protein 21A isoform X7 XP_047283042.1:p.Asp489= XP_047283042.1:p.Asp489Glu XP_047283042.1:p.Asp489= XP_047283042.1:p.Asp489Glu
PHD finger protein 21A isoform X1 XP_047283035.1:p.Asp497= XP_047283035.1:p.Asp497Glu XP_047283035.1:p.Asp497= XP_047283035.1:p.Asp497Glu
PHD finger protein 21A isoform X5 XP_047283040.1:p.Asp490= XP_047283040.1:p.Asp490Glu XP_047283040.1:p.Asp490= XP_047283040.1:p.Asp490Glu
PHD finger protein 21A isoform X6 XP_047283044.1:p.Asp489= XP_047283044.1:p.Asp489Glu XP_047283044.1:p.Asp489= XP_047283044.1:p.Asp489Glu
PHD finger protein 21A isoform X9 XP_047283048.1:p.Asp490= XP_047283048.1:p.Asp490Glu XP_047283048.1:p.Asp490= XP_047283048.1:p.Asp490Glu
PHD finger protein 21A isoform X8 XP_047283046.1:p.Asp488= XP_047283046.1:p.Asp488Glu XP_047283046.1:p.Asp488= XP_047283046.1:p.Asp488Glu
PHD finger protein 21A isoform X9 XP_047283050.1:p.Asp490= XP_047283050.1:p.Asp490Glu XP_047283050.1:p.Asp490= XP_047283050.1:p.Asp490Glu
PHD finger protein 21A isoform X3 XP_047283038.1:p.Asp496= XP_047283038.1:p.Asp496Glu XP_047283038.1:p.Asp496= XP_047283038.1:p.Asp496Glu
PHD finger protein 21A isoform X2 XP_047283037.1:p.Asp496= XP_047283037.1:p.Asp496Glu XP_047283037.1:p.Asp496= XP_047283037.1:p.Asp496Glu
PHD finger protein 21A isoform X6 XP_047283041.1:p.Asp489= XP_047283041.1:p.Asp489Glu XP_047283041.1:p.Asp489= XP_047283041.1:p.Asp489Glu
PHD finger protein 21A isoform X8 XP_047283047.1:p.Asp488= XP_047283047.1:p.Asp488Glu XP_047283047.1:p.Asp488= XP_047283047.1:p.Asp488Glu
PHD finger protein 21A isoform X12 XP_047283054.1:p.Asp449= XP_047283054.1:p.Asp449Glu XP_047283054.1:p.Asp449= XP_047283054.1:p.Asp449Glu
PHD finger protein 21A isoform X9 XP_047283049.1:p.Asp490= XP_047283049.1:p.Asp490Glu XP_047283049.1:p.Asp490= XP_047283049.1:p.Asp490Glu
PHD finger protein 21A isoform b NP_001338958.1:p.Asp443= NP_001338958.1:p.Asp443Glu NP_001338958.1:p.Asp443= NP_001338958.1:p.Asp443Glu
PHD finger protein 21A isoform X4 XP_047283039.1:p.Asp495= XP_047283039.1:p.Asp495Glu XP_047283039.1:p.Asp495= XP_047283039.1:p.Asp495Glu
PHD finger protein 21A isoform X7 XP_047283045.1:p.Asp489= XP_047283045.1:p.Asp489Glu XP_047283045.1:p.Asp489= XP_047283045.1:p.Asp489Glu
PHD finger protein 21A isoform X6 XP_047283043.1:p.Asp489= XP_047283043.1:p.Asp489Glu XP_047283043.1:p.Asp489= XP_047283043.1:p.Asp489Glu
PHD finger protein 21A isoform X14 XP_047283056.1:p.Asp443= XP_047283056.1:p.Asp443Glu XP_047283056.1:p.Asp443= XP_047283056.1:p.Asp443Glu
PHD finger protein 21A isoform X10 XP_047283051.1:p.Asp450= XP_047283051.1:p.Asp450Glu XP_047283051.1:p.Asp450= XP_047283051.1:p.Asp450Glu
PHD finger protein 21A isoform X11 XP_047283053.1:p.Asp449= XP_047283053.1:p.Asp449Glu XP_047283053.1:p.Asp449= XP_047283053.1:p.Asp449Glu
PHD finger protein 21A isoform X16 XP_047283059.1:p.Asp441= XP_047283059.1:p.Asp441Glu XP_047283059.1:p.Asp441= XP_047283059.1:p.Asp441Glu
PHD finger protein 21A isoform X14 XP_047283057.1:p.Asp443= XP_047283057.1:p.Asp443Glu XP_047283057.1:p.Asp443= XP_047283057.1:p.Asp443Glu
PHD finger protein 21A isoform X15 XP_047283058.1:p.Asp442= XP_047283058.1:p.Asp442Glu XP_047283058.1:p.Asp442= XP_047283058.1:p.Asp442Glu
PHD finger protein 21A isoform b NP_001338957.1:p.Asp443= NP_001338957.1:p.Asp443Glu NP_001338957.1:p.Asp443= NP_001338957.1:p.Asp443Glu
PHD finger protein 21A isoform X21 XP_047283069.1:p.Asp489= XP_047283069.1:p.Asp489Glu XP_047283069.1:p.Asp489= XP_047283069.1:p.Asp489Glu
PHD finger protein 21A isoform X20 XP_047283067.1:p.Asp497= XP_047283067.1:p.Asp497Glu XP_047283067.1:p.Asp497= XP_047283067.1:p.Asp497Glu
PHF21A transcript variant X9 XM_005252970.1:c.1453-1726= XM_005252970.1:c.1453-1726T>G XM_005252970.1:c.1453-1726T>C XM_005252970.1:c.1453-1726T>A
PHF21A transcript variant X29 XM_047427099.1:c.1474-1726= XM_047427099.1:c.1474-1726T>G XM_047427099.1:c.1474-1726T>C XM_047427099.1:c.1474-1726T>A
PHF21A transcript variant X35 XM_047427104.1:c.1453-1726= XM_047427104.1:c.1453-1726T>G XM_047427104.1:c.1453-1726T>C XM_047427104.1:c.1453-1726T>A
PHF21A transcript variant X36 XM_047427105.1:c.1453-1726= XM_047427105.1:c.1453-1726T>G XM_047427105.1:c.1453-1726T>C XM_047427105.1:c.1453-1726T>A
PHF21A transcript variant X37 XM_047427107.1:c.1450-1726= XM_047427107.1:c.1450-1726T>G XM_047427107.1:c.1450-1726T>C XM_047427107.1:c.1450-1726T>A
PHF21A transcript variant X38 XM_047427108.1:c.1450-1726= XM_047427108.1:c.1450-1726T>G XM_047427108.1:c.1450-1726T>C XM_047427108.1:c.1450-1726T>A
PHF21A transcript variant X39 XM_047427109.1:c.1450-1726= XM_047427109.1:c.1450-1726T>G XM_047427109.1:c.1450-1726T>C XM_047427109.1:c.1450-1726T>A
PHF21A transcript variant X40 XM_047427110.1:c.1450-1726= XM_047427110.1:c.1450-1726T>G XM_047427110.1:c.1450-1726T>C XM_047427110.1:c.1450-1726T>A
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Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

4 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1690334894 Apr 01, 2015 (144)
2 WEILL_CORNELL_DGM ss1931845046 Feb 12, 2016 (147)
3 GNOMAD ss2738919282 Nov 08, 2017 (151)
4 EVA ss5141959014 Apr 27, 2021 (155)
5 ExAC NC_000011.9 - 45959846 Oct 12, 2018 (152)
6 gnomAD - Exomes NC_000011.9 - 45959846 Jul 13, 2019 (153)
7 Qatari NC_000011.9 - 45959846 Apr 26, 2020 (154)
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History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
588630, 8131995, ss1690334894, ss2738919282 NC_000011.9:45959845:A:C NC_000011.10:45938294:A:C (self)
13886976, ss1931845046 NC_000011.9:45959845:A:G NC_000011.10:45938294:A:G (self)
ss5141959014 NC_000011.10:45938294:A:T NC_000011.10:45938294:A:T (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs757392692

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The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post761+d5e8e07