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These reference sequences exist independently of genome builds. Explain
These reference sequences are curated independently of the genome
annotation cycle, so their versions may not match the RefSeq versions in the current
genome build. Identify version mismatches by comparing the version of the RefSeq in
this section to the one reported in Genomic regions,
transcripts, and products above.
Genomic
-
NG_009822.1Â RefSeqGene
- Range
-
5001..23325
- Download
- GenBank, FASTA, Sequence Viewer (Graphics), LRG_673
mRNA and Protein(s)
-
NM_000152.5 → NP_000143.2  lysosomal alpha-glucosidase preproprotein
See identical proteins and their annotated locations for NP_000143.2
Status: REVIEWED
- Description
- Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, and 3 all encode the same protein.
- Source sequence(s)
-
BC040431, BF206270, BF344248, BQ711289, HY015584, HY047261, HY101855, M34424, Y00839
- Consensus CDS
-
CCDS32760.1
- UniProtKB/Swiss-Prot
- P10253, Q09GN4, Q14351, Q16302, Q8IWE7
- Related
- ENSP00000305692.3, ENST00000302262.8
- Conserved Domains (4) summary
-
- smart00018
Location:81 → 132
- PD; P or trefoil or TFF domain
- cd06602
Location:359 → 717
- GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
- cd14752
Location:246 → 359
- GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
- pfam16863
Location:159 → 253
- NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase
-
NM_001079803.3 → NP_001073271.1  lysosomal alpha-glucosidase preproprotein
See identical proteins and their annotated locations for NP_001073271.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same protein.
- Source sequence(s)
-
BC040431, BF206270, BF344248, BQ711289, HY101855, M34424
- Consensus CDS
-
CCDS32760.1
- UniProtKB/Swiss-Prot
- P10253, Q09GN4, Q14351, Q16302, Q8IWE7
- Related
- ENSP00000374665.3, ENST00000390015.7
- Conserved Domains (4) summary
-
- smart00018
Location:81 → 132
- PD; P or trefoil or TFF domain
- cd06602
Location:359 → 717
- GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
- cd14752
Location:246 → 359
- GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
- pfam16863
Location:159 → 253
- NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase
-
NM_001079804.3 → NP_001073272.1  lysosomal alpha-glucosidase preproprotein
See identical proteins and their annotated locations for NP_001073272.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same protein.
- Source sequence(s)
-
BC040431, BF206270, BF344248, BQ711289, DC392486, M34424
- Consensus CDS
-
CCDS32760.1
- UniProtKB/Swiss-Prot
- P10253, Q09GN4, Q14351, Q16302, Q8IWE7
- Related
- ENSP00000460543.2, ENST00000570803.6
- Conserved Domains (4) summary
-
- smart00018
Location:81 → 132
- PD; P or trefoil or TFF domain
- cd06602
Location:359 → 717
- GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
- cd14752
Location:246 → 359
- GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
- pfam16863
Location:159 → 253
- NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase
-
NM_001406741.1 → NP_001393670.1  lysosomal alpha-glucosidase preproprotein
Status: REVIEWED
- Source sequence(s)
-
AC087741
- Consensus CDS
-
CCDS32760.1
- UniProtKB/Swiss-Prot
- P10253, Q09GN4, Q14351, Q16302, Q8IWE7
- Related
- ENSP00000519348.1, ENST00000714058.1
-
NM_001406742.1 → NP_001393671.1  lysosomal alpha-glucosidase preproprotein
Status: REVIEWED
- Source sequence(s)
-
AC087741
- Consensus CDS
-
CCDS32760.1
- UniProtKB/Swiss-Prot
- P10253, Q09GN4, Q14351, Q16302, Q8IWE7
- Related
- ENSP00000458306.2, ENST00000577106.6
RNA
-
NR_134848.2 RNA Sequence
Status: REVIEWED
- Description
- Transcript Variant: This variant (4) lacks several exons and uses alternate splice sites compared to variant 1. This variant (4) is represented as non-coding because it lacks the entire coding region, including the translational start codon, found in variant 1.
- Source sequence(s)
-
BC065262, HY101855
- Related
-
ENST00000574376.1
The following sections contain reference sequences that belong to a
specific genome build. Explain
This section includes genomic Reference
Sequences (RefSeqs) from all assemblies on which this gene is annotated, such as
RefSeqs for chromosomes and scaffolds (contigs) from both reference and alternate
assemblies. Model RNAs and proteins are also reported here.
Reference GRCh38.p14 Primary Assembly
Genomic
-
NC_000017.11Â Reference GRCh38.p14 Primary Assembly
- Range
-
80101581..80119881
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
mRNA and Protein(s)
-
XM_047435719.1 → XP_047291675.1  lysosomal alpha-glucosidase isoform X1
- UniProtKB/Swiss-Prot
- P10253, Q09GN4, Q14351, Q16302, Q8IWE7
Reference GRCh38.p14 PATCHES
Genomic
-
NW_025791802.1Â Reference GRCh38.p14 PATCHES
- Range
-
126287..144587
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
mRNA and Protein(s)
-
XM_054333199.1 → XP_054189174.1  lysosomal alpha-glucosidase isoform X1
- UniProtKB/Swiss-Prot
- P10253, Q09GN4, Q14351, Q16302, Q8IWE7
Alternate T2T-CHM13v2.0
Genomic
-
NC_060941.1Â Alternate T2T-CHM13v2.0
- Range
-
81002020..81020360
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)