Canonical Allele Identifier: CA474958936
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64519075T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751603T>A , CM000673.2:g.64751603T>A GRCh38
NC_000011.9:g.64519075T>A , CM000673.1:g.64519075T>A GRCh37
NC_000011.8:g.64275651T>A NCBI36
NG_013018.1:g.14113A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.1821A>T MANE Select ENSP00000164139.3:p.Gly607=
ENST00000164139.3:c.1821A>T ENSP00000164139.3:p.Gly607=
ENST00000377432.7:c.1557A>T ENSP00000366650.3:p.Gly519=
ENST00000462303.1:n.145A>T
NM_001164716.1:c.1557A>T NP_001158188.1:p.Gly519=
NM_005609.2:c.1821A>T NP_005600.1:p.Gly607=
NM_005609.3:c.1821A>T NP_005600.1:p.Gly607=
NM_005609.4:c.1821A>T MANE Select NP_005600.1:p.Gly607=