Canonical Allele Identifier: CA381169187
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 2435322
ClinVar RCV Id: RCV003135180
dbSNP Id: rs1374947591
MyVariant Identifiers: chr11:g.64518892G>A (hg19) chr11:g.64751420G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751420G>A , CM000673.2:g.64751420G>A GRCh38
NC_000011.9:g.64518892G>A , CM000673.1:g.64518892G>A GRCh37
NC_000011.8:g.64275468G>A NCBI36
NG_013018.1:g.14296C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1874C>T MANE Select ENSP00000164139.3:p.Thr625Ile
ENST00000164139.3:c.1874C>T ENSP00000164139.3:p.Thr625Ile
ENST00000377432.7:c.1610C>T ENSP00000366650.3:p.Thr537Ile
ENST00000462303.1:n.198C>T
NM_001164716.1:c.1610C>T NP_001158188.1:p.Thr537Ile
NM_005609.2:c.1874C>T NP_005600.1:p.Thr625Ile
NM_005609.3:c.1874C>T NP_005600.1:p.Thr625Ile
NM_005609.4:c.1874C>T MANE Select NP_005600.1:p.Thr625Ile
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