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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.

rs749381550

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:45979804 (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
C>A / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000008 (2/248350, GnomAD_exome)
T=0.000008 (1/120988, ExAC)
T=0.00000 (0/10680, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PHF21A : Missense Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 10680 C=1.00000 T=0.00000
European Sub 6962 C=1.0000 T=0.0000
African Sub 2294 C=1.0000 T=0.0000
African Others Sub 84 C=1.00 T=0.00
African American Sub 2210 C=1.0000 T=0.0000
Asian Sub 108 C=1.000 T=0.000
East Asian Sub 84 C=1.00 T=0.00
Other Asian Sub 24 C=1.00 T=0.00
Latin American 1 Sub 146 C=1.000 T=0.000
Latin American 2 Sub 610 C=1.000 T=0.000
South Asian Sub 94 C=1.00 T=0.00
Other Sub 466 C=1.000 T=0.000


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 248350 C=0.999992 T=0.000008
gnomAD - Exomes European Sub 132510 C=0.999985 T=0.000015
gnomAD - Exomes Asian Sub 48924 C=1.00000 T=0.00000
gnomAD - Exomes American Sub 34532 C=1.00000 T=0.00000
gnomAD - Exomes African Sub 16232 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10056 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6096 C=1.0000 T=0.0000
ExAC Global Study-wide 120988 C=0.999992 T=0.000008
ExAC Europe Sub 73096 C=0.99999 T=0.00001
ExAC Asian Sub 25090 C=1.00000 T=0.00000
ExAC American Sub 11512 C=1.00000 T=0.00000
ExAC African Sub 10382 C=1.00000 T=0.00000
ExAC Other Sub 908 C=1.000 T=0.000
Allele Frequency Aggregator Total Global 10680 C=1.00000 T=0.00000
Allele Frequency Aggregator European Sub 6962 C=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 2294 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 T=0.000
Allele Frequency Aggregator Other Sub 466 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 108 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 94 C=1.00 T=0.00
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.45979804C>A
GRCh38.p14 chr 11 NC_000011.10:g.45979804C>T
GRCh37.p13 chr 11 NC_000011.9:g.46001355C>A
GRCh37.p13 chr 11 NC_000011.9:g.46001355C>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.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform b NP_001338958.1:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant 7 NM_001352029.1:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform b NP_001338958.1:p.Ala106Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant 6 NM_001352028.1:c.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform b NP_001338957.1:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant 6 NM_001352028.1:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform b NP_001338957.1:p.Ala106Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant 2 NM_016621.5:c.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform b NP_057705.3:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant 2 NM_016621.5:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform b NP_057705.3:p.Ala106Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant 1 NM_001101802.3:c.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform a NP_001095272.1:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant 1 NM_001101802.3:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform a NP_001095272.1:p.Ala106Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant 9 NM_001352031.3:c.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform d NP_001338960.1:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant 9 NM_001352031.3:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform d NP_001338960.1:p.Ala106Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant 10 NM_001352032.3:c.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform d NP_001338961.1:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant 10 NM_001352032.3:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform d NP_001338961.1:p.Ala106Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant 5 NM_001352027.3:c.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform c NP_001338956.1:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant 5 NM_001352027.3:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform c NP_001338956.1:p.Ala106Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant 8 NM_001352030.3:c.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform 8 NP_001338959.1:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant 8 NM_001352030.3:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform 8 NP_001338959.1:p.Ala106Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant 4 NM_001352026.3:c.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform c NP_001338955.1:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant 4 NM_001352026.3:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform c NP_001338955.1:p.Ala106Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant 3 NM_001352025.3:c.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform c NP_001338954.1:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant 3 NM_001352025.3:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform c NP_001338954.1:p.Ala106Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant 11 NR_147890.3:n.960G>T N/A Non Coding Transcript Variant
PHF21A transcript variant 11 NR_147890.3:n.960G>A N/A Non Coding Transcript Variant
PHF21A transcript variant 12 NR_165446.1:n.960G>T N/A Non Coding Transcript Variant
PHF21A transcript variant 12 NR_165446.1:n.960G>A N/A Non Coding Transcript Variant
PHF21A transcript variant X1 XM_011520157.3:c.337G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X1 XP_011518459.1:p.Ala113Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X1 XM_011520157.3:c.337G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X1 XP_011518459.1:p.Ala113Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X2 XM_017017887.3:c.337G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X1 XP_016873376.1:p.Ala113Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X2 XM_017017887.3:c.337G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X1 XP_016873376.1:p.Ala113Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X3 XM_011520158.3:c.337G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X1 XP_011518460.1:p.Ala113Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X3 XM_011520158.3:c.337G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X1 XP_011518460.1:p.Ala113Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X4 XM_047427079.1:c.337G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X1 XP_047283035.1:p.Ala113Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X4 XM_047427079.1:c.337G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X1 XP_047283035.1:p.Ala113Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X5 XM_047427080.1:c.337G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X1 XP_047283036.1:p.Ala113Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X5 XM_047427080.1:c.337G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X1 XP_047283036.1:p.Ala113Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X6 XM_017017889.2:c.337G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X2 XP_016873378.1:p.Ala113Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X6 XM_017017889.2:c.337G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X2 XP_016873378.1:p.Ala113Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X7 XM_047427081.1:c.337G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X2 XP_047283037.1:p.Ala113Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X7 XM_047427081.1:c.337G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X2 XP_047283037.1:p.Ala113Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X8 XM_047427082.1:c.337G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X3 XP_047283038.1:p.Ala113Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X8 XM_047427082.1:c.337G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X3 XP_047283038.1:p.Ala113Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X9 XM_047427083.1:c.337G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X4 XP_047283039.1:p.Ala113Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X9 XM_047427083.1:c.337G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X4 XP_047283039.1:p.Ala113Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X10 XM_011520174.3:c.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X5 XP_011518476.1:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X10 XM_011520174.3:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X5 XP_011518476.1:p.Ala106Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X11 XM_005252965.5:c.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X5 XP_005253022.1:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X11 XM_005252965.5:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X5 XP_005253022.1:p.Ala106Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X12 XM_047427084.1:c.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X5 XP_047283040.1:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X12 XM_047427084.1:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X5 XP_047283040.1:p.Ala106Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X13 XM_017017892.2:c.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X6 XP_016873381.1:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X13 XM_017017892.2:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X6 XP_016873381.1:p.Ala106Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X14 XM_017017891.2:c.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X7 XP_016873380.1:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X14 XM_017017891.2:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X7 XP_016873380.1:p.Ala106Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X15 XM_047427085.1:c.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X6 XP_047283041.1:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X15 XM_047427085.1:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X6 XP_047283041.1:p.Ala106Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X16 XM_047427086.1:c.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X7 XP_047283042.1:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X16 XM_047427086.1:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X7 XP_047283042.1:p.Ala106Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X17 XM_047427087.1:c.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X6 XP_047283043.1:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X17 XM_047427087.1:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X6 XP_047283043.1:p.Ala106Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X18 XM_047427088.1:c.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X6 XP_047283044.1:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X18 XM_047427088.1:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X6 XP_047283044.1:p.Ala106Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X19 XM_047427089.1:c.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X7 XP_047283045.1:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X19 XM_047427089.1:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X7 XP_047283045.1:p.Ala106Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X20 XM_011520175.3:c.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X6 XP_011518477.1:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X20 XM_011520175.3:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X6 XP_011518477.1:p.Ala106Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X21 XM_047427090.1:c.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X8 XP_047283046.1:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X21 XM_047427090.1:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X8 XP_047283046.1:p.Ala106Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X22 XM_047427091.1:c.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X8 XP_047283047.1:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X22 XM_047427091.1:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X8 XP_047283047.1:p.Ala106Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X23 XM_047427092.1:c.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X9 XP_047283048.1:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X23 XM_047427092.1:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X9 XP_047283048.1:p.Ala106Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X24 XM_047427093.1:c.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X9 XP_047283049.1:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X24 XM_047427093.1:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X9 XP_047283049.1:p.Ala106Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X25 XM_047427094.1:c.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X9 XP_047283050.1:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X25 XM_047427094.1:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X9 XP_047283050.1:p.Ala106Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X26 XM_047427095.1:c.337G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X10 XP_047283051.1:p.Ala113Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X26 XM_047427095.1:c.337G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X10 XP_047283051.1:p.Ala113Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X27 XM_047427097.1:c.337G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X11 XP_047283053.1:p.Ala113Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X27 XM_047427097.1:c.337G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X11 XP_047283053.1:p.Ala113Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X28 XM_047427098.1:c.337G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X12 XP_047283054.1:p.Ala113Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X28 XM_047427098.1:c.337G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X12 XP_047283054.1:p.Ala113Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X29 XM_047427099.1:c.337G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X13 XP_047283055.1:p.Ala113Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X29 XM_047427099.1:c.337G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X13 XP_047283055.1:p.Ala113Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X30 XM_011520179.4:c.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X14 XP_011518481.1:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X30 XM_011520179.4:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X14 XP_011518481.1:p.Ala106Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X31 XM_047427100.1:c.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X14 XP_047283056.1:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X31 XM_047427100.1:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X14 XP_047283056.1:p.Ala106Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X32 XM_047427101.1:c.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X14 XP_047283057.1:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X32 XM_047427101.1:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X14 XP_047283057.1:p.Ala106Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X33 XM_047427102.1:c.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X15 XP_047283058.1:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X33 XM_047427102.1:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X15 XP_047283058.1:p.Ala106Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X34 XM_047427103.1:c.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X16 XP_047283059.1:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X34 XM_047427103.1:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X16 XP_047283059.1:p.Ala106Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X35 XM_047427104.1:c.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X17 XP_047283060.1:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X35 XM_047427104.1:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X17 XP_047283060.1:p.Ala106Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X36 XM_047427105.1:c.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X17 XP_047283061.1:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X36 XM_047427105.1:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X17 XP_047283061.1:p.Ala106Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X37 XM_047427107.1:c.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X18 XP_047283063.1:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X37 XM_047427107.1:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X18 XP_047283063.1:p.Ala106Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X38 XM_047427108.1:c.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X19 XP_047283064.1:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X38 XM_047427108.1:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X19 XP_047283064.1:p.Ala106Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X39 XM_047427109.1:c.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X18 XP_047283065.1:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X39 XM_047427109.1:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X18 XP_047283065.1:p.Ala106Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X40 XM_047427110.1:c.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X18 XP_047283066.1:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X40 XM_047427110.1:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X18 XP_047283066.1:p.Ala106Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X41 XM_047427111.1:c.337G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X20 XP_047283067.1:p.Ala113Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X41 XM_047427111.1:c.337G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X20 XP_047283067.1:p.Ala113Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X42 XM_047427113.1:c.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X21 XP_047283069.1:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X42 XM_047427113.1:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X21 XP_047283069.1:p.Ala106Thr A (Ala) > T (Thr) Missense Variant
PHF21A transcript variant X43 XM_017017907.2:c.316G>T A [GCC] > S [TCC] Coding Sequence Variant
PHD finger protein 21A isoform X22 XP_016873396.1:p.Ala106Ser A (Ala) > S (Ser) Missense Variant
PHF21A transcript variant X43 XM_017017907.2:c.316G>A A [GCC] > T [ACC] Coding Sequence Variant
PHD finger protein 21A isoform X22 XP_016873396.1:p.Ala106Thr A (Ala) > T (Thr) 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 C= A T
GRCh38.p14 chr 11 NC_000011.10:g.45979804= NC_000011.10:g.45979804C>A NC_000011.10:g.45979804C>T
GRCh37.p13 chr 11 NC_000011.9:g.46001355= NC_000011.9:g.46001355C>A NC_000011.9:g.46001355C>T
PHF21A transcript variant 2 NM_016621.5:c.316= NM_016621.5:c.316G>T NM_016621.5:c.316G>A
PHF21A transcript variant 2 NM_016621.4:c.316= NM_016621.4:c.316G>T NM_016621.4:c.316G>A
PHF21A transcript variant 2 NM_016621.3:c.316= NM_016621.3:c.316G>T NM_016621.3:c.316G>A
PHF21A transcript variant X11 XM_005252965.5:c.316= XM_005252965.5:c.316G>T XM_005252965.5:c.316G>A
PHF21A transcript variant X21 XM_005252965.4:c.316= XM_005252965.4:c.316G>T XM_005252965.4:c.316G>A
PHF21A transcript variant X20 XM_005252965.3:c.316= XM_005252965.3:c.316G>T XM_005252965.3:c.316G>A
PHF21A transcript variant X4 XM_005252965.2:c.316= XM_005252965.2:c.316G>T XM_005252965.2:c.316G>A
PHF21A transcript variant X4 XM_005252965.1:c.316= XM_005252965.1:c.316G>T XM_005252965.1:c.316G>A
PHF21A transcript variant X30 XM_011520179.4:c.316= XM_011520179.4:c.316G>T XM_011520179.4:c.316G>A
PHF21A transcript variant X34 XM_011520179.3:c.316= XM_011520179.3:c.316G>T XM_011520179.3:c.316G>A
PHF21A transcript variant X33 XM_011520179.2:c.316= XM_011520179.2:c.316G>T XM_011520179.2:c.316G>A
PHF21A transcript variant X26 XM_011520179.1:c.316= XM_011520179.1:c.316G>T XM_011520179.1:c.316G>A
PHF21A transcript variant 3 NM_001352025.3:c.316= NM_001352025.3:c.316G>T NM_001352025.3:c.316G>A
PHF21A transcript variant 3 NM_001352025.2:c.316= NM_001352025.2:c.316G>T NM_001352025.2:c.316G>A
PHF21A transcript variant 3 NM_001352025.1:c.316= NM_001352025.1:c.316G>T NM_001352025.1:c.316G>A
PHF21A transcript variant X3 XM_011520158.3:c.337= XM_011520158.3:c.337G>T XM_011520158.3:c.337G>A
PHF21A transcript variant X1 XM_011520158.2:c.337= XM_011520158.2:c.337G>T XM_011520158.2:c.337G>A
PHF21A transcript variant X2 XM_011520158.1:c.337= XM_011520158.1:c.337G>T XM_011520158.1:c.337G>A
PHF21A transcript variant 5 NM_001352027.3:c.316= NM_001352027.3:c.316G>T NM_001352027.3:c.316G>A
PHF21A transcript variant 5 NM_001352027.2:c.316= NM_001352027.2:c.316G>T NM_001352027.2:c.316G>A
PHF21A transcript variant 5 NM_001352027.1:c.316= NM_001352027.1:c.316G>T NM_001352027.1:c.316G>A
PHF21A transcript variant 10 NM_001352032.3:c.316= NM_001352032.3:c.316G>T NM_001352032.3:c.316G>A
PHF21A transcript variant 10 NM_001352032.2:c.316= NM_001352032.2:c.316G>T NM_001352032.2:c.316G>A
PHF21A transcript variant 10 NM_001352032.1:c.316= NM_001352032.1:c.316G>T NM_001352032.1:c.316G>A
PHF21A transcript variant X1 XM_011520157.3:c.337= XM_011520157.3:c.337G>T XM_011520157.3:c.337G>A
PHF21A transcript variant X8 XM_011520157.2:c.337= XM_011520157.2:c.337G>T XM_011520157.2:c.337G>A
PHF21A transcript variant X1 XM_011520157.1:c.337= XM_011520157.1:c.337G>T XM_011520157.1:c.337G>A
PHF21A transcript variant 4 NM_001352026.3:c.316= NM_001352026.3:c.316G>T NM_001352026.3:c.316G>A
PHF21A transcript variant 4 NM_001352026.2:c.316= NM_001352026.2:c.316G>T NM_001352026.2:c.316G>A
PHF21A transcript variant 4 NM_001352026.1:c.316= NM_001352026.1:c.316G>T NM_001352026.1:c.316G>A
PHF21A transcript variant 1 NM_001101802.3:c.316= NM_001101802.3:c.316G>T NM_001101802.3:c.316G>A
PHF21A transcript variant 1 NM_001101802.2:c.316= NM_001101802.2:c.316G>T NM_001101802.2:c.316G>A
PHF21A transcript variant 1 NM_001101802.1:c.316= NM_001101802.1:c.316G>T NM_001101802.1:c.316G>A
PHF21A transcript variant 11 NR_147890.3:n.960= NR_147890.3:n.960G>T NR_147890.3:n.960G>A
PHF21A transcript NR_147890.2:n.491= NR_147890.2:n.491G>T NR_147890.2:n.491G>A
PHF21A transcript NR_147890.1:n.940= NR_147890.1:n.940G>T NR_147890.1:n.940G>A
PHF21A transcript variant 9 NM_001352031.3:c.316= NM_001352031.3:c.316G>T NM_001352031.3:c.316G>A
PHF21A transcript variant 9 NM_001352031.2:c.316= NM_001352031.2:c.316G>T NM_001352031.2:c.316G>A
PHF21A transcript variant 9 NM_001352031.1:c.316= NM_001352031.1:c.316G>T NM_001352031.1:c.316G>A
PHF21A transcript variant 8 NM_001352030.3:c.316= NM_001352030.3:c.316G>T NM_001352030.3:c.316G>A
PHF21A transcript variant 8 NM_001352030.2:c.316= NM_001352030.2:c.316G>T NM_001352030.2:c.316G>A
PHF21A transcript variant 8 NM_001352030.1:c.316= NM_001352030.1:c.316G>T NM_001352030.1:c.316G>A
PHF21A transcript variant X10 XM_011520174.3:c.316= XM_011520174.3:c.316G>T XM_011520174.3:c.316G>A
PHF21A transcript variant X17 XM_011520174.2:c.316= XM_011520174.2:c.316G>T XM_011520174.2:c.316G>A
PHF21A transcript variant X19 XM_011520174.1:c.316= XM_011520174.1:c.316G>T XM_011520174.1:c.316G>A
PHF21A transcript variant X20 XM_011520175.3:c.316= XM_011520175.3:c.316G>T XM_011520175.3:c.316G>A
PHF21A transcript variant X24 XM_011520175.2:c.316= XM_011520175.2:c.316G>T XM_011520175.2:c.316G>A
PHF21A transcript variant X21 XM_011520175.1:c.316= XM_011520175.1:c.316G>T XM_011520175.1:c.316G>A
PHF21A transcript variant X2 XM_017017887.3:c.337= XM_017017887.3:c.337G>T XM_017017887.3:c.337G>A
PHF21A transcript variant X13 XM_017017887.2:c.337= XM_017017887.2:c.337G>T XM_017017887.2:c.337G>A
PHF21A transcript variant X14 XM_017017887.1:c.337= XM_017017887.1:c.337G>T XM_017017887.1:c.337G>A
PHF21A transcript variant X6 XM_017017889.2:c.337= XM_017017889.2:c.337G>T XM_017017889.2:c.337G>A
PHF21A transcript variant X15 XM_017017889.1:c.337= XM_017017889.1:c.337G>T XM_017017889.1:c.337G>A
PHF21A transcript variant X13 XM_017017892.2:c.316= XM_017017892.2:c.316G>T XM_017017892.2:c.316G>A
PHF21A transcript variant X23 XM_017017892.1:c.316= XM_017017892.1:c.316G>T XM_017017892.1:c.316G>A
PHF21A transcript variant X14 XM_017017891.2:c.316= XM_017017891.2:c.316G>T XM_017017891.2:c.316G>A
PHF21A transcript variant X22 XM_017017891.1:c.316= XM_017017891.1:c.316G>T XM_017017891.1:c.316G>A
PHF21A transcript variant X43 XM_017017907.2:c.316= XM_017017907.2:c.316G>T XM_017017907.2:c.316G>A
PHF21A transcript variant X41 XM_017017907.1:c.316= XM_017017907.1:c.316G>T XM_017017907.1:c.316G>A
PHF21A transcript variant X5 XM_047427080.1:c.337= XM_047427080.1:c.337G>T XM_047427080.1:c.337G>A
PHF21A transcript variant X16 XM_047427086.1:c.316= XM_047427086.1:c.316G>T XM_047427086.1:c.316G>A
PHF21A transcript variant X4 XM_047427079.1:c.337= XM_047427079.1:c.337G>T XM_047427079.1:c.337G>A
PHF21A transcript variant X12 XM_047427084.1:c.316= XM_047427084.1:c.316G>T XM_047427084.1:c.316G>A
PHF21A transcript variant X18 XM_047427088.1:c.316= XM_047427088.1:c.316G>T XM_047427088.1:c.316G>A
PHF21A transcript variant X23 XM_047427092.1:c.316= XM_047427092.1:c.316G>T XM_047427092.1:c.316G>A
PHF21A transcript variant X21 XM_047427090.1:c.316= XM_047427090.1:c.316G>T XM_047427090.1:c.316G>A
PHF21A transcript variant 12 NR_165446.1:n.960= NR_165446.1:n.960G>T NR_165446.1:n.960G>A
PHF21A transcript variant X25 XM_047427094.1:c.316= XM_047427094.1:c.316G>T XM_047427094.1:c.316G>A
PHF21A transcript variant X8 XM_047427082.1:c.337= XM_047427082.1:c.337G>T XM_047427082.1:c.337G>A
PHF21A transcript variant X7 XM_047427081.1:c.337= XM_047427081.1:c.337G>T XM_047427081.1:c.337G>A
PHF21A transcript variant X15 XM_047427085.1:c.316= XM_047427085.1:c.316G>T XM_047427085.1:c.316G>A
PHF21A transcript variant X22 XM_047427091.1:c.316= XM_047427091.1:c.316G>T XM_047427091.1:c.316G>A
PHF21A transcript variant X35 XM_047427104.1:c.316= XM_047427104.1:c.316G>T XM_047427104.1:c.316G>A
PHF21A transcript variant X37 XM_047427107.1:c.316= XM_047427107.1:c.316G>T XM_047427107.1:c.316G>A
PHF21A transcript variant X28 XM_047427098.1:c.337= XM_047427098.1:c.337G>T XM_047427098.1:c.337G>A
PHF21A transcript variant X36 XM_047427105.1:c.316= XM_047427105.1:c.316G>T XM_047427105.1:c.316G>A
PHF21A transcript variant X39 XM_047427109.1:c.316= XM_047427109.1:c.316G>T XM_047427109.1:c.316G>A
PHF21A transcript variant X38 XM_047427108.1:c.316= XM_047427108.1:c.316G>T XM_047427108.1:c.316G>A
PHF21A transcript variant X24 XM_047427093.1:c.316= XM_047427093.1:c.316G>T XM_047427093.1:c.316G>A
PHF21A transcript variant 7 NM_001352029.1:c.316= NM_001352029.1:c.316G>T NM_001352029.1:c.316G>A
PHF21A transcript variant X9 XM_047427083.1:c.337= XM_047427083.1:c.337G>T XM_047427083.1:c.337G>A
PHF21A transcript variant X19 XM_047427089.1:c.316= XM_047427089.1:c.316G>T XM_047427089.1:c.316G>A
PHF21A transcript variant X17 XM_047427087.1:c.316= XM_047427087.1:c.316G>T XM_047427087.1:c.316G>A
PHF21A transcript variant X31 XM_047427100.1:c.316= XM_047427100.1:c.316G>T XM_047427100.1:c.316G>A
PHF21A transcript variant X26 XM_047427095.1:c.337= XM_047427095.1:c.337G>T XM_047427095.1:c.337G>A
PHF21A transcript variant X27 XM_047427097.1:c.337= XM_047427097.1:c.337G>T XM_047427097.1:c.337G>A
PHF21A transcript variant X29 XM_047427099.1:c.337= XM_047427099.1:c.337G>T XM_047427099.1:c.337G>A
PHF21A transcript variant X34 XM_047427103.1:c.316= XM_047427103.1:c.316G>T XM_047427103.1:c.316G>A
PHF21A transcript variant X32 XM_047427101.1:c.316= XM_047427101.1:c.316G>T XM_047427101.1:c.316G>A
PHF21A transcript variant X33 XM_047427102.1:c.316= XM_047427102.1:c.316G>T XM_047427102.1:c.316G>A
PHF21A transcript variant X40 XM_047427110.1:c.316= XM_047427110.1:c.316G>T XM_047427110.1:c.316G>A
PHF21A transcript variant 6 NM_001352028.1:c.316= NM_001352028.1:c.316G>T NM_001352028.1:c.316G>A
PHF21A transcript variant X42 XM_047427113.1:c.316= XM_047427113.1:c.316G>T XM_047427113.1:c.316G>A
PHF21A transcript variant X41 XM_047427111.1:c.337= XM_047427111.1:c.337G>T XM_047427111.1:c.337G>A
PHD finger protein 21A isoform b NP_057705.3:p.Ala106= NP_057705.3:p.Ala106Ser NP_057705.3:p.Ala106Thr
PHD finger protein 21A isoform X5 XP_005253022.1:p.Ala106= XP_005253022.1:p.Ala106Ser XP_005253022.1:p.Ala106Thr
PHD finger protein 21A isoform X14 XP_011518481.1:p.Ala106= XP_011518481.1:p.Ala106Ser XP_011518481.1:p.Ala106Thr
PHD finger protein 21A isoform c NP_001338954.1:p.Ala106= NP_001338954.1:p.Ala106Ser NP_001338954.1:p.Ala106Thr
PHD finger protein 21A isoform X1 XP_011518460.1:p.Ala113= XP_011518460.1:p.Ala113Ser XP_011518460.1:p.Ala113Thr
PHD finger protein 21A isoform c NP_001338956.1:p.Ala106= NP_001338956.1:p.Ala106Ser NP_001338956.1:p.Ala106Thr
PHD finger protein 21A isoform d NP_001338961.1:p.Ala106= NP_001338961.1:p.Ala106Ser NP_001338961.1:p.Ala106Thr
PHD finger protein 21A isoform X1 XP_011518459.1:p.Ala113= XP_011518459.1:p.Ala113Ser XP_011518459.1:p.Ala113Thr
PHD finger protein 21A isoform c NP_001338955.1:p.Ala106= NP_001338955.1:p.Ala106Ser NP_001338955.1:p.Ala106Thr
PHD finger protein 21A isoform a NP_001095272.1:p.Ala106= NP_001095272.1:p.Ala106Ser NP_001095272.1:p.Ala106Thr
PHD finger protein 21A isoform d NP_001338960.1:p.Ala106= NP_001338960.1:p.Ala106Ser NP_001338960.1:p.Ala106Thr
PHD finger protein 21A isoform 8 NP_001338959.1:p.Ala106= NP_001338959.1:p.Ala106Ser NP_001338959.1:p.Ala106Thr
PHD finger protein 21A isoform X5 XP_011518476.1:p.Ala106= XP_011518476.1:p.Ala106Ser XP_011518476.1:p.Ala106Thr
PHD finger protein 21A isoform X6 XP_011518477.1:p.Ala106= XP_011518477.1:p.Ala106Ser XP_011518477.1:p.Ala106Thr
PHD finger protein 21A isoform X1 XP_016873376.1:p.Ala113= XP_016873376.1:p.Ala113Ser XP_016873376.1:p.Ala113Thr
PHD finger protein 21A isoform X2 XP_016873378.1:p.Ala113= XP_016873378.1:p.Ala113Ser XP_016873378.1:p.Ala113Thr
PHD finger protein 21A isoform X6 XP_016873381.1:p.Ala106= XP_016873381.1:p.Ala106Ser XP_016873381.1:p.Ala106Thr
PHD finger protein 21A isoform X7 XP_016873380.1:p.Ala106= XP_016873380.1:p.Ala106Ser XP_016873380.1:p.Ala106Thr
PHD finger protein 21A isoform X22 XP_016873396.1:p.Ala106= XP_016873396.1:p.Ala106Ser XP_016873396.1:p.Ala106Thr
PHD finger protein 21A isoform X1 XP_047283036.1:p.Ala113= XP_047283036.1:p.Ala113Ser XP_047283036.1:p.Ala113Thr
PHD finger protein 21A isoform X7 XP_047283042.1:p.Ala106= XP_047283042.1:p.Ala106Ser XP_047283042.1:p.Ala106Thr
PHD finger protein 21A isoform X1 XP_047283035.1:p.Ala113= XP_047283035.1:p.Ala113Ser XP_047283035.1:p.Ala113Thr
PHD finger protein 21A isoform X5 XP_047283040.1:p.Ala106= XP_047283040.1:p.Ala106Ser XP_047283040.1:p.Ala106Thr
PHD finger protein 21A isoform X6 XP_047283044.1:p.Ala106= XP_047283044.1:p.Ala106Ser XP_047283044.1:p.Ala106Thr
PHD finger protein 21A isoform X9 XP_047283048.1:p.Ala106= XP_047283048.1:p.Ala106Ser XP_047283048.1:p.Ala106Thr
PHD finger protein 21A isoform X8 XP_047283046.1:p.Ala106= XP_047283046.1:p.Ala106Ser XP_047283046.1:p.Ala106Thr
PHD finger protein 21A isoform X9 XP_047283050.1:p.Ala106= XP_047283050.1:p.Ala106Ser XP_047283050.1:p.Ala106Thr
PHD finger protein 21A isoform X3 XP_047283038.1:p.Ala113= XP_047283038.1:p.Ala113Ser XP_047283038.1:p.Ala113Thr
PHD finger protein 21A isoform X2 XP_047283037.1:p.Ala113= XP_047283037.1:p.Ala113Ser XP_047283037.1:p.Ala113Thr
PHD finger protein 21A isoform X6 XP_047283041.1:p.Ala106= XP_047283041.1:p.Ala106Ser XP_047283041.1:p.Ala106Thr
PHD finger protein 21A isoform X8 XP_047283047.1:p.Ala106= XP_047283047.1:p.Ala106Ser XP_047283047.1:p.Ala106Thr
PHD finger protein 21A isoform X17 XP_047283060.1:p.Ala106= XP_047283060.1:p.Ala106Ser XP_047283060.1:p.Ala106Thr
PHD finger protein 21A isoform X18 XP_047283063.1:p.Ala106= XP_047283063.1:p.Ala106Ser XP_047283063.1:p.Ala106Thr
PHD finger protein 21A isoform X12 XP_047283054.1:p.Ala113= XP_047283054.1:p.Ala113Ser XP_047283054.1:p.Ala113Thr
PHD finger protein 21A isoform X17 XP_047283061.1:p.Ala106= XP_047283061.1:p.Ala106Ser XP_047283061.1:p.Ala106Thr
PHD finger protein 21A isoform X18 XP_047283065.1:p.Ala106= XP_047283065.1:p.Ala106Ser XP_047283065.1:p.Ala106Thr
PHD finger protein 21A isoform X19 XP_047283064.1:p.Ala106= XP_047283064.1:p.Ala106Ser XP_047283064.1:p.Ala106Thr
PHD finger protein 21A isoform X9 XP_047283049.1:p.Ala106= XP_047283049.1:p.Ala106Ser XP_047283049.1:p.Ala106Thr
PHD finger protein 21A isoform b NP_001338958.1:p.Ala106= NP_001338958.1:p.Ala106Ser NP_001338958.1:p.Ala106Thr
PHD finger protein 21A isoform X4 XP_047283039.1:p.Ala113= XP_047283039.1:p.Ala113Ser XP_047283039.1:p.Ala113Thr
PHD finger protein 21A isoform X7 XP_047283045.1:p.Ala106= XP_047283045.1:p.Ala106Ser XP_047283045.1:p.Ala106Thr
PHD finger protein 21A isoform X6 XP_047283043.1:p.Ala106= XP_047283043.1:p.Ala106Ser XP_047283043.1:p.Ala106Thr
PHD finger protein 21A isoform X14 XP_047283056.1:p.Ala106= XP_047283056.1:p.Ala106Ser XP_047283056.1:p.Ala106Thr
PHD finger protein 21A isoform X10 XP_047283051.1:p.Ala113= XP_047283051.1:p.Ala113Ser XP_047283051.1:p.Ala113Thr
PHD finger protein 21A isoform X11 XP_047283053.1:p.Ala113= XP_047283053.1:p.Ala113Ser XP_047283053.1:p.Ala113Thr
PHD finger protein 21A isoform X13 XP_047283055.1:p.Ala113= XP_047283055.1:p.Ala113Ser XP_047283055.1:p.Ala113Thr
PHD finger protein 21A isoform X16 XP_047283059.1:p.Ala106= XP_047283059.1:p.Ala106Ser XP_047283059.1:p.Ala106Thr
PHD finger protein 21A isoform X14 XP_047283057.1:p.Ala106= XP_047283057.1:p.Ala106Ser XP_047283057.1:p.Ala106Thr
PHD finger protein 21A isoform X15 XP_047283058.1:p.Ala106= XP_047283058.1:p.Ala106Ser XP_047283058.1:p.Ala106Thr
PHD finger protein 21A isoform X18 XP_047283066.1:p.Ala106= XP_047283066.1:p.Ala106Ser XP_047283066.1:p.Ala106Thr
PHD finger protein 21A isoform b NP_001338957.1:p.Ala106= NP_001338957.1:p.Ala106Ser NP_001338957.1:p.Ala106Thr
PHD finger protein 21A isoform X21 XP_047283069.1:p.Ala106= XP_047283069.1:p.Ala106Ser XP_047283069.1:p.Ala106Thr
PHD finger protein 21A isoform X20 XP_047283067.1:p.Ala113= XP_047283067.1:p.Ala113Ser XP_047283067.1:p.Ala113Thr
Help

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#.

2 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1690335168 Apr 01, 2015 (144)
2 HUMAN_LONGEVITY ss2182285254 Dec 20, 2016 (150)
3 ExAC NC_000011.9 - 46001355 Oct 12, 2018 (152)
4 gnomAD - Exomes NC_000011.9 - 46001355 Jul 13, 2019 (153)
5 ALFA NC_000011.10 - 45979804 Apr 27, 2021 (155)
Help

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
ss2182285254 NC_000011.10:45979803:C:A NC_000011.10:45979803:C:A (self)
588917, 8132414, ss1690335168 NC_000011.9:46001354:C:T NC_000011.10:45979803:C:T (self)
10041586790, ss2182285254 NC_000011.10:45979803:C:T NC_000011.10:45979803:C: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 rs749381550

Help

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
Top Help

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