Canonical Allele Identifier: CA406761757

Gene: GYS1

Linked Data

• gnomAD v4: 19-48974717-G-T
• MyVariant Identifiers: chr19:g.49477974G>T (hg19) ; chr19:g.48974717G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974717G>T , CM000681.2:g.48974717G>T	GRCh38
NC_000019.9:g.49477974G>T , CM000681.1:g.49477974G>T	GRCh37
NC_000019.8:g.54169786G>T	NCBI36
NG_012923.1:g.23637C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1325C>A MANE Select	ENSP00000317904.3:p.Pro442His
ENST00000263276.6:c.1133C>A	ENSP00000263276.6:p.Pro378His
ENST00000323798.7:c.1325C>A	ENSP00000317904.3:p.Pro442His
ENST00000472004.5:n.80C>A
ENST00000496048.1:n.232C>A
NM_001161587.1:c.1133C>A	NP_001155059.1:p.Pro378His
NM_002103.4:c.1325C>A	NP_002094.2:p.Pro442His
NR_027763.1:n.1384C>A
NM_002103.5:c.1325C>A MANE Select	NP_002094.2:p.Pro442His
NM_001161587.2:c.1133C>A	NP_001155059.1:p.Pro378His
NR_027763.2:n.1340C>A