Canonical Allele Identifier: CA474960270

Gene: PYGM

Linked Data

• MyVariant Identifiers: chr11:g.64525910T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64758438T>G , CM000673.2:g.64758438T>G	GRCh38
NC_000011.9:g.64525910T>G , CM000673.1:g.64525910T>G	GRCh37
NC_000011.8:g.64282486T>G	NCBI36
NG_013018.1:g.7278A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.423A>C MANE Select	ENSP00000164139.3:p.Ala141=
ENST00000164139.3:c.423A>C	ENSP00000164139.3:p.Ala141=
ENST00000377432.7:c.244-172A>C	ENSP00000366650.3:n.244-172A>C
NM_001164716.1:c.244-172A>C	NP_001158188.1:n.244-172A>C
NM_005609.2:c.423A>C	NP_005600.1:p.Ala141=
NM_005609.3:c.423A>C	NP_005600.1:p.Ala141=
NM_005609.4:c.423A>C MANE Select	NP_005600.1:p.Ala141=