Canonical Allele Identifier: CA9562984

Gene: GYS1

Linked Data

• ClinVar Variation Id: 498163
• ClinVar RCV Id: RCV000594334 ; RCV002532403
• dbSNP Id: rs756191455
• ExAC: 19:49477981 A / G
• gnomAD v2: 19-49477981-A-G
• gnomAD v3: 19-48974724-A-G
• gnomAD v4: 19-48974724-A-G
• MyVariant Identifiers: chr19:g.49477981A>G (hg19) ; chr19:g.48974724A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974724A>G , CM000681.2:g.48974724A>G	GRCh38
NC_000019.9:g.49477981A>G , CM000681.1:g.49477981A>G	GRCh37
NC_000019.8:g.54169793A>G	NCBI36
NG_012923.1:g.23630T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1318T>C MANE Select	ENSP00000317904.3:p.Phe440Leu
ENST00000263276.6:c.1126T>C	ENSP00000263276.6:p.Phe376Leu
ENST00000323798.7:c.1318T>C	ENSP00000317904.3:p.Phe440Leu
ENST00000472004.5:n.73T>C
ENST00000496048.1:n.225T>C
NM_001161587.1:c.1126T>C	NP_001155059.1:p.Phe376Leu
NM_002103.4:c.1318T>C	NP_002094.2:p.Phe440Leu
NR_027763.1:n.1377T>C
NM_002103.5:c.1318T>C MANE Select	NP_002094.2:p.Phe440Leu
NM_001161587.2:c.1126T>C	NP_001155059.1:p.Phe376Leu
NR_027763.2:n.1333T>C