Canonical Allele Identifier: CA406761704

Gene: GYS1

Linked Data

• ClinVar Variation Id: 2672782
• ClinVar RCV Id: RCV003457042
• gnomAD v4: 19-48974693-T-A
• MyVariant Identifiers: chr19:g.49477950T>A (hg19) ; chr19:g.48974693T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974693T>A , CM000681.2:g.48974693T>A	GRCh38
NC_000019.9:g.49477950T>A , CM000681.1:g.49477950T>A	GRCh37
NC_000019.8:g.54169762T>A	NCBI36
NG_012923.1:g.23661A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1349A>T MANE Select	ENSP00000317904.3:p.Asp450Val
ENST00000263276.6:c.1157A>T	ENSP00000263276.6:p.Asp386Val
ENST00000323798.7:c.1349A>T	ENSP00000317904.3:p.Asp450Val
ENST00000472004.5:n.104A>T
ENST00000496048.1:n.256A>T
NM_001161587.1:c.1157A>T	NP_001155059.1:p.Asp386Val
NM_002103.4:c.1349A>T	NP_002094.2:p.Asp450Val
NR_027763.1:n.1408A>T
NM_002103.5:c.1349A>T MANE Select	NP_002094.2:p.Asp450Val
NM_001161587.2:c.1157A>T	NP_001155059.1:p.Asp386Val
NR_027763.2:n.1364A>T