Canonical Allele Identifier: CA406761631

Gene: GYS1

Linked Data

• gnomAD v4: 19-48974660-C-A
• MyVariant Identifiers: chr19:g.49477917C>A (hg19) ; chr19:g.48974660C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974660C>A , CM000681.2:g.48974660C>A	GRCh38
NC_000019.9:g.49477917C>A , CM000681.1:g.49477917C>A	GRCh37
NC_000019.8:g.54169729C>A	NCBI36
NG_012923.1:g.23694G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1382G>T MANE Select	ENSP00000317904.3:p.Arg461Leu
ENST00000263276.6:c.1190G>T	ENSP00000263276.6:p.Arg397Leu
ENST00000323798.7:c.1382G>T	ENSP00000317904.3:p.Arg461Leu
ENST00000472004.5:n.137G>T
ENST00000496048.1:n.289G>T
NM_001161587.1:c.1190G>T	NP_001155059.1:p.Arg397Leu
NM_002103.4:c.1382G>T	NP_002094.2:p.Arg461Leu
NR_027763.1:n.1441G>T
NM_002103.5:c.1382G>T MANE Select	NP_002094.2:p.Arg461Leu
NM_001161587.2:c.1190G>T	NP_001155059.1:p.Arg397Leu
NR_027763.2:n.1397G>T