Canonical Allele Identifier: CA2340166083

Gene: GYS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974688A= , CM000681.2:g.48974688A=	GRCh38
NC_000019.9:g.49477945A= , CM000681.1:g.49477945A=	GRCh37
NC_000019.8:g.54169757A=	NCBI36
NG_012923.1:g.23666T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1354T= MANE Select	ENSP00000317904.3:p.Ser452=
ENST00000263276.6:c.1162T=	ENSP00000263276.6:p.Ser388=
ENST00000323798.7:c.1354T=	ENSP00000317904.3:p.Ser452=
ENST00000472004.5:n.109T=
ENST00000496048.1:n.261T=
NM_001161587.1:c.1162T=	NP_001155059.1:p.Ser388=
NM_002103.4:c.1354T=	NP_002094.2:p.Ser452=
NR_027763.1:n.1413T=
NM_002103.5:c.1354T= MANE Select	NP_002094.2:p.Ser452=
NM_001161587.2:c.1162T=	NP_001155059.1:p.Ser388=
NR_027763.2:n.1369T=