Canonical Allele Identifier: CA406761645

Gene: GYS1

Linked Data

• dbSNP Id: rs1333590725
• gnomAD v2: 19-49477923-G-A
• gnomAD v3: 19-48974666-G-A
• gnomAD v4: 19-48974666-G-A
• MyVariant Identifiers: chr19:g.49477923G>A (hg19) ; chr19:g.48974666G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974666G>A , CM000681.2:g.48974666G>A	GRCh38
NC_000019.9:g.49477923G>A , CM000681.1:g.49477923G>A	GRCh37
NC_000019.8:g.54169735G>A	NCBI36
NG_012923.1:g.23688C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1376C>T MANE Select	ENSP00000317904.3:p.Thr459Ile
ENST00000263276.6:c.1184C>T	ENSP00000263276.6:p.Thr395Ile
ENST00000323798.7:c.1376C>T	ENSP00000317904.3:p.Thr459Ile
ENST00000472004.5:n.131C>T
ENST00000496048.1:n.283C>T
NM_001161587.1:c.1184C>T	NP_001155059.1:p.Thr395Ile
NM_002103.4:c.1376C>T	NP_002094.2:p.Thr459Ile
NR_027763.1:n.1435C>T
NM_002103.5:c.1376C>T MANE Select	NP_002094.2:p.Thr459Ile
NM_001161587.2:c.1184C>T	NP_001155059.1:p.Thr395Ile
NR_027763.2:n.1391C>T