Canonical Allele Identifier: CA1978917783

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64751933G= , CM000673.2:g.64751933G=	GRCh38
NC_000011.9:g.64519405G= , CM000673.1:g.64519405G=	GRCh37
NC_000011.8:g.64275981G=	NCBI36
NG_013018.1:g.13783C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000164139.4:c.1759C= MANE Select	ENSP00000164139.3:p.Leu587=
ENST00000164139.3:c.1759C=	ENSP00000164139.3:p.Leu587=
ENST00000377432.7:c.1495C=	ENSP00000366650.3:p.Leu499=
ENST00000462303.1:n.83C=
NM_001164716.1:c.1495C=	NP_001158188.1:p.Leu499=
NM_005609.2:c.1759C=	NP_005600.1:p.Leu587=
NM_005609.3:c.1759C=	NP_005600.1:p.Leu587=
NM_005609.4:c.1759C= MANE Select	NP_005600.1:p.Leu587=