Canonical Allele Identifier: CA6079692
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs148177970
ExAC: 11:64518906 G / A
gnomAD v2: 11-64518906-G-A
COSMIC: COSM3451534
MyVariant Identifiers: chr11:g.64518906G>A (hg19) chr11:g.64751434G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751434G>A , CM000673.2:g.64751434G>A GRCh38
NC_000011.9:g.64518906G>A , CM000673.1:g.64518906G>A GRCh37
NC_000011.8:g.64275482G>A NCBI36
NG_013018.1:g.14282C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.1860C>T MANE Select ENSP00000164139.3:p.Ile620=
ENST00000164139.3:c.1860C>T ENSP00000164139.3:p.Ile620=
ENST00000377432.7:c.1596C>T ENSP00000366650.3:p.Ile532=
ENST00000462303.1:n.184C>T
NM_001164716.1:c.1596C>T NP_001158188.1:p.Ile532=
NM_005609.2:c.1860C>T NP_005600.1:p.Ile620=
NM_005609.3:c.1860C>T NP_005600.1:p.Ile620=
NM_005609.4:c.1860C>T MANE Select NP_005600.1:p.Ile620=
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