Canonical Allele Identifier: CA309387051

Gene: GYS1

Linked Data

• dbSNP Id: rs937367257
• gnomAD v2: 19-49477882-C-A
• gnomAD v4: 19-48974625-C-A
• MyVariant Identifiers: chr19:g.49477882C>A (hg19) ; chr19:g.48974625C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974625C>A , CM000681.2:g.48974625C>A	GRCh38
NC_000019.9:g.49477882C>A , CM000681.1:g.49477882C>A	GRCh37
NC_000019.8:g.54169694C>A	NCBI36
NG_012923.1:g.23729G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1417G>T MANE Select	ENSP00000317904.3:p.Val473Leu
ENST00000263276.6:c.1225G>T	ENSP00000263276.6:p.Val409Leu
ENST00000323798.7:c.1417G>T	ENSP00000317904.3:p.Val473Leu
ENST00000472004.5:n.172G>T
ENST00000496048.1:n.324G>T
NM_001161587.1:c.1225G>T	NP_001155059.1:p.Val409Leu
NM_002103.4:c.1417G>T	NP_002094.2:p.Val473Leu
NR_027763.1:n.1476G>T
NM_002103.5:c.1417G>T MANE Select	NP_002094.2:p.Val473Leu
NM_001161587.2:c.1225G>T	NP_001155059.1:p.Val409Leu
NR_027763.2:n.1432G>T