Canonical Allele Identifier: CA9562975
Gene: GYS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 676335
ClinVar RCV Id: RCV000835768 RCV001080283
dbSNP Id: rs377125421
ExAC: 19:49477967 G / A
gnomAD v2: 19-49477967-G-A
gnomAD v3: 19-48974710-G-A
gnomAD v4: 19-48974710-G-A
MyVariant Identifiers: chr19:g.49477967G>A (hg19) chr19:g.48974710G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48974710G>A , CM000681.2:g.48974710G>A GRCh38
NC_000019.9:g.49477967G>A , CM000681.1:g.49477967G>A GRCh37
NC_000019.8:g.54169779G>A NCBI36
NG_012923.1:g.23644C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000323798.8:c.1332C>T MANE Select ENSP00000317904.3:p.Cys444=
ENST00000263276.6:c.1140C>T ENSP00000263276.6:p.Cys380=
ENST00000323798.7:c.1332C>T ENSP00000317904.3:p.Cys444=
ENST00000472004.5:n.87C>T
ENST00000496048.1:n.239C>T
NM_001161587.1:c.1140C>T NP_001155059.1:p.Cys380=
NM_002103.4:c.1332C>T NP_002094.2:p.Cys444=
NR_027763.1:n.1391C>T
NM_002103.5:c.1332C>T MANE Select NP_002094.2:p.Cys444=
NM_001161587.2:c.1140C>T NP_001155059.1:p.Cys380=
NR_027763.2:n.1347C>T
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