Canonical Allele Identifier: CA2340166052

Gene: GYS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974625C= , CM000681.2:g.48974625C=	GRCh38
NC_000019.9:g.49477882C= , CM000681.1:g.49477882C=	GRCh37
NC_000019.8:g.54169694C=	NCBI36
NG_012923.1:g.23729G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1417G= MANE Select	ENSP00000317904.3:p.Val473=
ENST00000263276.6:c.1225G=	ENSP00000263276.6:p.Val409=
ENST00000323798.7:c.1417G=	ENSP00000317904.3:p.Val473=
ENST00000472004.5:n.172G=
ENST00000496048.1:n.324G=
NM_001161587.1:c.1225G=	NP_001155059.1:p.Val409=
NM_002103.4:c.1417G=	NP_002094.2:p.Val473=
NR_027763.1:n.1476G=
NM_002103.5:c.1417G= MANE Select	NP_002094.2:p.Val473=
NM_001161587.2:c.1225G=	NP_001155059.1:p.Val409=
NR_027763.2:n.1432G=