Canonical Allele Identifier: CA2340166103

Gene: GYS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974726G= , CM000681.2:g.48974726G=	GRCh38
NC_000019.9:g.49477983G= , CM000681.1:g.49477983G=	GRCh37
NC_000019.8:g.54169795G=	NCBI36
NG_012923.1:g.23628C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1316C= MANE Select	ENSP00000317904.3:p.Ser439=
ENST00000263276.6:c.1124C=	ENSP00000263276.6:p.Ser375=
ENST00000323798.7:c.1316C=	ENSP00000317904.3:p.Ser439=
ENST00000472004.5:n.71C=
ENST00000496048.1:n.223C=
NM_001161587.1:c.1124C=	NP_001155059.1:p.Ser375=
NM_002103.4:c.1316C=	NP_002094.2:p.Ser439=
NR_027763.1:n.1375C=
NM_002103.5:c.1316C= MANE Select	NP_002094.2:p.Ser439=
NM_001161587.2:c.1124C=	NP_001155059.1:p.Ser375=
NR_027763.2:n.1331C=