Canonical Allele Identifier: CA474958913
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 763425
ClinVar RCV Id: RCV001438628
dbSNP Id: rs1592409104
MyVariant Identifiers: chr11:g.64518903G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751431G>A , CM000673.2:g.64751431G>A GRCh38
NC_000011.9:g.64518903G>A , CM000673.1:g.64518903G>A GRCh37
NC_000011.8:g.64275479G>A NCBI36
NG_013018.1:g.14285C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.1863C>T MANE Select ENSP00000164139.3:p.Ile621=
ENST00000164139.3:c.1863C>T ENSP00000164139.3:p.Ile621=
ENST00000377432.7:c.1599C>T ENSP00000366650.3:p.Ile533=
ENST00000462303.1:n.187C>T
NM_001164716.1:c.1599C>T NP_001158188.1:p.Ile533=
NM_005609.2:c.1863C>T NP_005600.1:p.Ile621=
NM_005609.3:c.1863C>T NP_005600.1:p.Ile621=
NM_005609.4:c.1863C>T MANE Select NP_005600.1:p.Ile621=
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