Canonical Allele Identifier: CA6079669
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 433147
ClinVar RCV Id: RCV000498994
dbSNP Id: rs114073621
ExAC: 11:64518818 G / A
gnomAD v3: 11-64751346-G-A
gnomAD v4: 11-64751346-G-A
MyVariant Identifiers: chr11:g.64518818G>A (hg19) chr11:g.64751346G>A (hg38)
PubMed: PMID:17324573
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751346G>A , CM000673.2:g.64751346G>A GRCh38
NC_000011.9:g.64518818G>A , CM000673.1:g.64518818G>A GRCh37
NC_000011.8:g.64275394G>A NCBI36
NG_013018.1:g.14370C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.1948C>T MANE Select ENSP00000164139.3:p.Arg650Ter
ENST00000164139.3:c.1948C>T ENSP00000164139.3:p.Arg650Ter
ENST00000377432.7:c.1684C>T ENSP00000366650.3:p.Arg562Ter
ENST00000462303.1:n.272C>T
NM_001164716.1:c.1684C>T NP_001158188.1:p.Arg562Ter
NM_005609.2:c.1948C>T NP_005600.1:p.Arg650Ter
NM_005609.3:c.1948C>T NP_005600.1:p.Arg650Ter
NM_005609.4:c.1948C>T MANE Select NP_005600.1:p.Arg650Ter
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