Canonical Allele Identifier: CA508081584

Gene: GYS1

Linked Data

• dbSNP Id: rs2038616950
• gnomAD v4: 19-48974668-G-T
• MyVariant Identifiers: chr19:g.49477925G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974668G>T , CM000681.2:g.48974668G>T	GRCh38
NC_000019.9:g.49477925G>T , CM000681.1:g.49477925G>T	GRCh37
NC_000019.8:g.54169737G>T	NCBI36
NG_012923.1:g.23686C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000323798.8:c.1374C>A MANE Select	ENSP00000317904.3:p.Thr458=
ENST00000263276.6:c.1182C>A	ENSP00000263276.6:p.Thr394=
ENST00000323798.7:c.1374C>A	ENSP00000317904.3:p.Thr458=
ENST00000472004.5:n.129C>A
ENST00000496048.1:n.281C>A
NM_001161587.1:c.1182C>A	NP_001155059.1:p.Thr394=
NM_002103.4:c.1374C>A	NP_002094.2:p.Thr458=
NR_027763.1:n.1433C>A
NM_002103.5:c.1374C>A MANE Select	NP_002094.2:p.Thr458=
NM_001161587.2:c.1182C>A	NP_001155059.1:p.Thr394=
NR_027763.2:n.1389C>A