Canonical Allele Identifier: CA6079548
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs200164932
ExAC: 11:64514451 A / T
gnomAD v2: 11-64514451-A-T
gnomAD v3: 11-64746979-A-T
gnomAD v4: 11-64746979-A-T
MyVariant Identifiers: chr11:g.64514451A>T (hg19) chr11:g.64746979A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64746979A>T , CM000673.2:g.64746979A>T GRCh38
NC_000011.9:g.64514451A>T , CM000673.1:g.64514451A>T GRCh37
NC_000011.8:g.64271027A>T NCBI36
NG_007574.1:g.3478T>A , LRG_100:g.3478T>A
NG_013018.1:g.18737T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2321T>A MANE Select ENSP00000164139.3:p.Val774Asp
ENST00000164139.3:c.2321T>A ENSP00000164139.3:p.Val774Asp
ENST00000377432.7:c.2057T>A ENSP00000366650.3:p.Val686Asp
ENST00000483742.1:n.1674T>A
NM_001164716.1:c.2057T>A NP_001158188.1:p.Val686Asp
NM_005609.2:c.2321T>A NP_005600.1:p.Val774Asp
NM_005609.3:c.2321T>A NP_005600.1:p.Val774Asp
NM_005609.4:c.2321T>A MANE Select NP_005600.1:p.Val774Asp
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