Canonical Allele Identifier: CA9562662

Gene: GYS1

Linked Data

• ClinVar Variation Id: 329801
• ClinVar RCV Id: RCV000304771 ; RCV000308508 ; RCV000390061
• dbSNP Id: rs147489255
• ExAC: 19:49472244 C / T
• gnomAD v2: 19-49472244-C-T
• gnomAD v3: 19-48968987-C-T
• gnomAD v4: 19-48968987-C-T
• MyVariant Identifiers: chr19:g.49472244C>T (hg19) ; chr19:g.48968987C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48968987C>T , CM000681.2:g.48968987C>T	GRCh38
NC_000019.9:g.49472244C>T , CM000681.1:g.49472244C>T	GRCh37
NC_000019.8:g.54164056C>T	NCBI36
NG_012923.1:g.29367G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.*301G>A MANE Select	ENSP00000317904.3:n.*301G>A
ENST00000263276.6:c.*301G>A	ENSP00000263276.6:n.*301G>A
ENST00000323798.7:c.*301G>A	ENSP00000317904.3:n.*301G>A
NM_001161587.1:c.*301G>A	NP_001155059.1:n.*301G>A
NM_002103.4:c.*301G>A	NP_002094.2:n.*301G>A
NR_027763.1:n.2574G>A
NM_002103.5:c.*301G>A MANE Select	NP_002094.2:n.*301G>A
NM_001161587.2:c.*301G>A	NP_001155059.1:n.*301G>A
NR_027763.2:n.2530G>A