Canonical Allele Identifier: CA474958543
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 1606443
ClinVar RCV Id: RCV002137749
dbSNP Id: rs2135823373
MyVariant Identifiers: chr11:g.64514441A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64746969A>G , CM000673.2:g.64746969A>G GRCh38
NC_000011.9:g.64514441A>G , CM000673.1:g.64514441A>G GRCh37
NC_000011.8:g.64271017A>G NCBI36
NG_007574.1:g.3488T>C , LRG_100:g.3488T>C
NG_013018.1:g.18747T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2331T>C MANE Select ENSP00000164139.3:p.Asp777=
ENST00000164139.3:c.2331T>C ENSP00000164139.3:p.Asp777=
ENST00000377432.7:c.2067T>C ENSP00000366650.3:p.Asp689=
ENST00000483742.1:n.1684T>C
NM_001164716.1:c.2067T>C NP_001158188.1:p.Asp689=
NM_005609.2:c.2331T>C NP_005600.1:p.Asp777=
NM_005609.3:c.2331T>C NP_005600.1:p.Asp777=
NM_005609.4:c.2331T>C MANE Select NP_005600.1:p.Asp777=
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