Canonical Allele Identifier: CA1978928146

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64758273A= , CM000673.2:g.64758273A=	GRCh38
NC_000011.9:g.64525745A= , CM000673.1:g.64525745A=	GRCh37
NC_000011.8:g.64282321A=	NCBI36
NG_013018.1:g.7443T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.501T= MANE Select	ENSP00000164139.3:p.Phe167=
ENST00000164139.3:c.501T=	ENSP00000164139.3:p.Phe167=
ENST00000377432.7:c.244-7T=	ENSP00000366650.3:n.244-7T=
NM_001164716.1:c.244-7T=	NP_001158188.1:n.244-7T=
NM_005609.2:c.501T=	NP_005600.1:p.Phe167=
NM_005609.3:c.501T=	NP_005600.1:p.Phe167=
NM_005609.4:c.501T= MANE Select	NP_005600.1:p.Phe167=