Canonical Allele Identifier: CA474958952
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64519093A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751621A>G , CM000673.2:g.64751621A>G GRCh38
NC_000011.9:g.64519093A>G , CM000673.1:g.64519093A>G GRCh37
NC_000011.8:g.64275669A>G NCBI36
NG_013018.1:g.14095T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1803T>C MANE Select ENSP00000164139.3:p.Pro601=
ENST00000164139.3:c.1803T>C ENSP00000164139.3:p.Pro601=
ENST00000377432.7:c.1539T>C ENSP00000366650.3:p.Pro513=
ENST00000462303.1:n.127T>C
NM_001164716.1:c.1539T>C NP_001158188.1:p.Pro513=
NM_005609.2:c.1803T>C NP_005600.1:p.Pro601=
NM_005609.3:c.1803T>C NP_005600.1:p.Pro601=
NM_005609.4:c.1803T>C MANE Select NP_005600.1:p.Pro601=