Canonical Allele Identifier: CA406761695

Gene: GYS1

Linked Data

• MyVariant Identifiers: chr19:g.49477947T>A (hg19) ; chr19:g.48974690T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974690T>A , CM000681.2:g.48974690T>A	GRCh38
NC_000019.9:g.49477947T>A , CM000681.1:g.49477947T>A	GRCh37
NC_000019.8:g.54169759T>A	NCBI36
NG_012923.1:g.23664A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1352A>T MANE Select	ENSP00000317904.3:p.Asp451Val
ENST00000263276.6:c.1160A>T	ENSP00000263276.6:p.Asp387Val
ENST00000323798.7:c.1352A>T	ENSP00000317904.3:p.Asp451Val
ENST00000472004.5:n.107A>T
ENST00000496048.1:n.259A>T
NM_001161587.1:c.1160A>T	NP_001155059.1:p.Asp387Val
NM_002103.4:c.1352A>T	NP_002094.2:p.Asp451Val
NR_027763.1:n.1411A>T
NM_002103.5:c.1352A>T MANE Select	NP_002094.2:p.Asp451Val
NM_001161587.2:c.1160A>T	NP_001155059.1:p.Asp387Val
NR_027763.2:n.1367A>T