Canonical Allele Identifier: CA406761634

Gene: GYS1

Linked Data

• dbSNP Id: rs1367900815
• gnomAD v2: 19-49477918-G-A
• gnomAD v3: 19-48974661-G-A
• gnomAD v4: 19-48974661-G-A
• MyVariant Identifiers: chr19:g.49477918G>A (hg19) ; chr19:g.48974661G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974661G>A , CM000681.2:g.48974661G>A	GRCh38
NC_000019.9:g.49477918G>A , CM000681.1:g.49477918G>A	GRCh37
NC_000019.8:g.54169730G>A	NCBI36
NG_012923.1:g.23693C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1381C>T MANE Select	ENSP00000317904.3:p.Arg461Cys
ENST00000263276.6:c.1189C>T	ENSP00000263276.6:p.Arg397Cys
ENST00000323798.7:c.1381C>T	ENSP00000317904.3:p.Arg461Cys
ENST00000472004.5:n.136C>T
ENST00000496048.1:n.288C>T
NM_001161587.1:c.1189C>T	NP_001155059.1:p.Arg397Cys
NM_002103.4:c.1381C>T	NP_002094.2:p.Arg461Cys
NR_027763.1:n.1440C>T
NM_002103.5:c.1381C>T MANE Select	NP_002094.2:p.Arg461Cys
NM_001161587.2:c.1189C>T	NP_001155059.1:p.Arg397Cys
NR_027763.2:n.1396C>T