Canonical Allele Identifier: CA2340166107

Gene: GYS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974733G= , CM000681.2:g.48974733G=	GRCh38
NC_000019.9:g.49477990G= , CM000681.1:g.49477990G=	GRCh37
NC_000019.8:g.54169802G=	NCBI36
NG_012923.1:g.23621C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1309C= MANE Select	ENSP00000317904.3:p.Arg437=
ENST00000263276.6:c.1117C=	ENSP00000263276.6:p.Arg373=
ENST00000323798.7:c.1309C=	ENSP00000317904.3:p.Arg437=
ENST00000472004.5:n.64C=
ENST00000496048.1:n.216C=
NM_001161587.1:c.1117C=	NP_001155059.1:p.Arg373=
NM_002103.4:c.1309C=	NP_002094.2:p.Arg437=
NR_027763.1:n.1368C=
NM_002103.5:c.1309C= MANE Select	NP_002094.2:p.Arg437=
NM_001161587.2:c.1117C=	NP_001155059.1:p.Arg373=
NR_027763.2:n.1324C=