Canonical Allele Identifier: CA309387074

Gene: GYS1

Linked Data

• dbSNP Id: rs748511018
• gnomAD v2: 19-49477921-T-C
• gnomAD v4: 19-48974664-T-C
• MyVariant Identifiers: chr19:g.49477921T>C (hg19) ; chr19:g.48974664T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974664T>C , CM000681.2:g.48974664T>C	GRCh38
NC_000019.9:g.49477921T>C , CM000681.1:g.49477921T>C	GRCh37
NC_000019.8:g.54169733T>C	NCBI36
NG_012923.1:g.23690A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1378A>G MANE Select	ENSP00000317904.3:p.Ile460Val
ENST00000263276.6:c.1186A>G	ENSP00000263276.6:p.Ile396Val
ENST00000323798.7:c.1378A>G	ENSP00000317904.3:p.Ile460Val
ENST00000472004.5:n.133A>G
ENST00000496048.1:n.285A>G
NM_001161587.1:c.1186A>G	NP_001155059.1:p.Ile396Val
NM_002103.4:c.1378A>G	NP_002094.2:p.Ile460Val
NR_027763.1:n.1437A>G
NM_002103.5:c.1378A>G MANE Select	NP_002094.2:p.Ile460Val
NM_001161587.2:c.1186A>G	NP_001155059.1:p.Ile396Val
NR_027763.2:n.1393A>G