Canonical Allele Identifier: CA2340166105

Gene: GYS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974729T= , CM000681.2:g.48974729T=	GRCh38
NC_000019.9:g.49477986T= , CM000681.1:g.49477986T=	GRCh37
NC_000019.8:g.54169798T=	NCBI36
NG_012923.1:g.23625A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1313A= MANE Select	ENSP00000317904.3:p.Gln438=
ENST00000263276.6:c.1121A=	ENSP00000263276.6:p.Gln374=
ENST00000323798.7:c.1313A=	ENSP00000317904.3:p.Gln438=
ENST00000472004.5:n.68A=
ENST00000496048.1:n.220A=
NM_001161587.1:c.1121A=	NP_001155059.1:p.Gln374=
NM_002103.4:c.1313A=	NP_002094.2:p.Gln438=
NR_027763.1:n.1372A=
NM_002103.5:c.1313A= MANE Select	NP_002094.2:p.Gln438=
NM_001161587.2:c.1121A=	NP_001155059.1:p.Gln374=
NR_027763.2:n.1328A=