Canonical Allele Identifier: CA406761786

Gene: GYS1

Linked Data

• ClinVar Variation Id: 2399147
• ClinVar RCV Id: RCV002749561
• dbSNP Id: rs369143238
• gnomAD v4: 19-48974733-G-A
• MyVariant Identifiers: chr19:g.49477990G>A (hg19) ; chr19:g.48974733G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974733G>A , CM000681.2:g.48974733G>A	GRCh38
NC_000019.9:g.49477990G>A , CM000681.1:g.49477990G>A	GRCh37
NC_000019.8:g.54169802G>A	NCBI36
NG_012923.1:g.23621C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1309C>T MANE Select	ENSP00000317904.3:p.Arg437Trp
ENST00000263276.6:c.1117C>T	ENSP00000263276.6:p.Arg373Trp
ENST00000323798.7:c.1309C>T	ENSP00000317904.3:p.Arg437Trp
ENST00000472004.5:n.64C>T
ENST00000496048.1:n.216C>T
NM_001161587.1:c.1117C>T	NP_001155059.1:p.Arg373Trp
NM_002103.4:c.1309C>T	NP_002094.2:p.Arg437Trp
NR_027763.1:n.1368C>T
NM_002103.5:c.1309C>T MANE Select	NP_002094.2:p.Arg437Trp
NM_001161587.2:c.1117C>T	NP_001155059.1:p.Arg373Trp
NR_027763.2:n.1324C>T