Canonical Allele Identifier: CA2340166090

Gene: GYS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974707G= , CM000681.2:g.48974707G=	GRCh38
NC_000019.9:g.49477964G= , CM000681.1:g.49477964G=	GRCh37
NC_000019.8:g.54169776G=	NCBI36
NG_012923.1:g.23647C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1335C= MANE Select	ENSP00000317904.3:p.Thr445=
ENST00000263276.6:c.1143C=	ENSP00000263276.6:p.Thr381=
ENST00000323798.7:c.1335C=	ENSP00000317904.3:p.Thr445=
ENST00000472004.5:n.90C=
ENST00000496048.1:n.242C=
NM_001161587.1:c.1143C=	NP_001155059.1:p.Thr381=
NM_002103.4:c.1335C=	NP_002094.2:p.Thr445=
NR_027763.1:n.1394C=
NM_002103.5:c.1335C= MANE Select	NP_002094.2:p.Thr445=
NM_001161587.2:c.1143C=	NP_001155059.1:p.Thr381=
NR_027763.2:n.1350C=