Canonical Allele Identifier: CA381175079
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 1209782
ClinVar RCV Id: RCV003331189
dbSNP Id: rs1555134900
MyVariant Identifiers: chr11:g.64520600G>A (hg19) chr11:g.64753128G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64753128G>A , CM000673.2:g.64753128G>A GRCh38
NC_000011.9:g.64520600G>A , CM000673.1:g.64520600G>A GRCh37
NC_000011.8:g.64277176G>A NCBI36
NG_013018.1:g.12588C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.1463C>T MANE Select ENSP00000164139.3:p.Thr488Ile
ENST00000164139.3:c.1463C>T ENSP00000164139.3:p.Thr488Ile
ENST00000377432.7:c.1199C>T ENSP00000366650.3:p.Thr400Ile
NM_001164716.1:c.1199C>T NP_001158188.1:p.Thr400Ile
NM_005609.2:c.1463C>T NP_005600.1:p.Thr488Ile
NM_005609.3:c.1463C>T NP_005600.1:p.Thr488Ile
NM_005609.4:c.1463C>T MANE Select NP_005600.1:p.Thr488Ile
Search 100 bp 5'
Search 100 bp 3'