Canonical Allele Identifier: CA2340166092

Gene: GYS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974710G= , CM000681.2:g.48974710G=	GRCh38
NC_000019.9:g.49477967G= , CM000681.1:g.49477967G=	GRCh37
NC_000019.8:g.54169779G=	NCBI36
NG_012923.1:g.23644C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1332C= MANE Select	ENSP00000317904.3:p.Cys444=
ENST00000263276.6:c.1140C=	ENSP00000263276.6:p.Cys380=
ENST00000323798.7:c.1332C=	ENSP00000317904.3:p.Cys444=
ENST00000472004.5:n.87C=
ENST00000496048.1:n.239C=
NM_001161587.1:c.1140C=	NP_001155059.1:p.Cys380=
NM_002103.4:c.1332C=	NP_002094.2:p.Cys444=
NR_027763.1:n.1391C=
NM_002103.5:c.1332C= MANE Select	NP_002094.2:p.Cys444=
NM_001161587.2:c.1140C=	NP_001155059.1:p.Cys380=
NR_027763.2:n.1347C=