Canonical Allele Identifier: CA381175107
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs1162560413
MyVariant Identifiers: chr11:g.64520601T>C (hg19) chr11:g.64753129T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64753129T>C , CM000673.2:g.64753129T>C GRCh38
NC_000011.9:g.64520601T>C , CM000673.1:g.64520601T>C GRCh37
NC_000011.8:g.64277177T>C NCBI36
NG_013018.1:g.12587A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.1462A>G MANE Select ENSP00000164139.3:p.Thr488Ala
ENST00000164139.3:c.1462A>G ENSP00000164139.3:p.Thr488Ala
ENST00000377432.7:c.1198A>G ENSP00000366650.3:p.Thr400Ala
NM_001164716.1:c.1198A>G NP_001158188.1:p.Thr400Ala
NM_005609.2:c.1462A>G NP_005600.1:p.Thr488Ala
NM_005609.3:c.1462A>G NP_005600.1:p.Thr488Ala
NM_005609.4:c.1462A>G MANE Select NP_005600.1:p.Thr488Ala
Search 100 bp 5'
Search 100 bp 3'