Canonical Allele Identifier: CA2136414917

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50909960A= , CM000676.2:g.50909960A=	GRCh38
NC_000014.8:g.51376678A= , CM000676.1:g.51376678A=	GRCh37
NC_000014.7:g.50446428A=	NCBI36
NG_012796.1:g.39571T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000216392.8:c.2112T= MANE Select	ENSP00000216392.7:p.Ala704=
ENST00000216392.7:c.2112T=	ENSP00000216392.7:p.Ala704=
ENST00000532107.2:n.285T=
ENST00000532462.5:c.2112T=	ENSP00000431657.1:p.Ala704=
ENST00000544180.6:c.2010T=	ENSP00000443787.1:p.Ala670=
NM_001163940.1:c.2010T=	NP_001157412.1:p.Ala670=
NM_002863.4:c.2112T=	NP_002854.3:p.Ala704=
NM_002863.5:c.2112T= MANE Select	NP_002854.3:p.Ala704=
NM_001163940.2:c.2010T=	NP_001157412.1:p.Ala670=