Canonical Allele Identifier: CA406761706

Gene: GYS1

Linked Data

• gnomAD v4: 19-48974694-C-A
• MyVariant Identifiers: chr19:g.49477951C>A (hg19) ; chr19:g.48974694C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974694C>A , CM000681.2:g.48974694C>A	GRCh38
NC_000019.9:g.49477951C>A , CM000681.1:g.49477951C>A	GRCh37
NC_000019.8:g.54169763C>A	NCBI36
NG_012923.1:g.23660G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1348G>T MANE Select	ENSP00000317904.3:p.Asp450Tyr
ENST00000263276.6:c.1156G>T	ENSP00000263276.6:p.Asp386Tyr
ENST00000323798.7:c.1348G>T	ENSP00000317904.3:p.Asp450Tyr
ENST00000472004.5:n.103G>T
ENST00000496048.1:n.255G>T
NM_001161587.1:c.1156G>T	NP_001155059.1:p.Asp386Tyr
NM_002103.4:c.1348G>T	NP_002094.2:p.Asp450Tyr
NR_027763.1:n.1407G>T
NM_002103.5:c.1348G>T MANE Select	NP_002094.2:p.Asp450Tyr
NM_001161587.2:c.1156G>T	NP_001155059.1:p.Asp386Tyr
NR_027763.2:n.1363G>T