Canonical Allele Identifier: CA1978917760

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64751928G= , CM000673.2:g.64751928G=	GRCh38
NC_000011.9:g.64519400G= , CM000673.1:g.64519400G=	GRCh37
NC_000011.8:g.64275976G=	NCBI36
NG_013018.1:g.13788C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000164139.4:c.1764C= MANE Select	ENSP00000164139.3:p.Tyr588=
ENST00000164139.3:c.1764C=	ENSP00000164139.3:p.Tyr588=
ENST00000377432.7:c.1500C=	ENSP00000366650.3:p.Tyr500=
ENST00000462303.1:n.88C=
NM_001164716.1:c.1500C=	NP_001158188.1:p.Tyr500=
NM_005609.2:c.1764C=	NP_005600.1:p.Tyr588=
NM_005609.3:c.1764C=	NP_005600.1:p.Tyr588=
NM_005609.4:c.1764C= MANE Select	NP_005600.1:p.Tyr588=