Canonical Allele Identifier: CA474960144

Gene: PYGM

Linked Data

• MyVariant Identifiers: chr11:g.64525799T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64758327T>A , CM000673.2:g.64758327T>A	GRCh38
NC_000011.9:g.64525799T>A , CM000673.1:g.64525799T>A	GRCh37
NC_000011.8:g.64282375T>A	NCBI36
NG_013018.1:g.7389A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.447A>T MANE Select	ENSP00000164139.3:p.Ala149=
ENST00000164139.3:c.447A>T	ENSP00000164139.3:p.Ala149=
ENST00000377432.7:c.244-61A>T	ENSP00000366650.3:n.244-61A>T
NM_001164716.1:c.244-61A>T	NP_001158188.1:n.244-61A>T
NM_005609.2:c.447A>T	NP_005600.1:p.Ala149=
NM_005609.3:c.447A>T	NP_005600.1:p.Ala149=
NM_005609.4:c.447A>T MANE Select	NP_005600.1:p.Ala149=