Canonical Allele Identifier: CA6079590
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs571207448
ExAC: 11:64514753 G / A
gnomAD v2: 11-64514753-G-A
gnomAD v3: 11-64747281-G-A
gnomAD v4: 11-64747281-G-A
MyVariant Identifiers: chr11:g.64514753G>A (hg19) chr11:g.64514753_64514756delinsAAGA (hg19) chr11:g.64747281G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747281G>A , CM000673.2:g.64747281G>A GRCh38
NC_000011.9:g.64514753G>A , CM000673.1:g.64514753G>A GRCh37
NC_000011.8:g.64271329G>A NCBI36
NG_007574.1:g.3176C>T , LRG_100:g.3176C>T
NG_013018.1:g.18435C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2255C>T MANE Select ENSP00000164139.3:p.Ser752Phe
ENST00000164139.3:c.2255C>T ENSP00000164139.3:p.Ser752Phe
ENST00000377432.7:c.1991C>T ENSP00000366650.3:p.Ser664Phe
ENST00000483742.1:n.1608C>T
NM_001164716.1:c.1991C>T NP_001158188.1:p.Ser664Phe
NM_005609.2:c.2255C>T NP_005600.1:p.Ser752Phe
NM_005609.3:c.2255C>T NP_005600.1:p.Ser752Phe
NM_005609.4:c.2255C>T MANE Select NP_005600.1:p.Ser752Phe
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