Canonical Allele Identifier: CA2340166063

Gene: GYS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974645A= , CM000681.2:g.48974645A=	GRCh38
NC_000019.9:g.49477902A= , CM000681.1:g.49477902A=	GRCh37
NC_000019.8:g.54169714A=	NCBI36
NG_012923.1:g.23709T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1397T= MANE Select	ENSP00000317904.3:p.Phe466=
ENST00000263276.6:c.1205T=	ENSP00000263276.6:p.Phe402=
ENST00000323798.7:c.1397T=	ENSP00000317904.3:p.Phe466=
ENST00000472004.5:n.152T=
ENST00000496048.1:n.304T=
NM_001161587.1:c.1205T=	NP_001155059.1:p.Phe402=
NM_002103.4:c.1397T=	NP_002094.2:p.Phe466=
NR_027763.1:n.1456T=
NM_002103.5:c.1397T= MANE Select	NP_002094.2:p.Phe466=
NM_001161587.2:c.1205T=	NP_001155059.1:p.Phe402=
NR_027763.2:n.1412T=