Canonical Allele Identifier: CA309387095
Gene: GYS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2302248
ClinVar RCV Id: RCV002869330
dbSNP Id: rs935135147
gnomAD v2: 19-49477983-G-T
gnomAD v3: 19-48974726-G-T
gnomAD v4: 19-48974726-G-T
MyVariant Identifiers: chr19:g.49477983G>T (hg19) chr19:g.48974726G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48974726G>T , CM000681.2:g.48974726G>T GRCh38
NC_000019.9:g.49477983G>T , CM000681.1:g.49477983G>T GRCh37
NC_000019.8:g.54169795G>T NCBI36
NG_012923.1:g.23628C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323798.8:c.1316C>A MANE Select ENSP00000317904.3:p.Ser439Tyr
ENST00000263276.6:c.1124C>A ENSP00000263276.6:p.Ser375Tyr
ENST00000323798.7:c.1316C>A ENSP00000317904.3:p.Ser439Tyr
ENST00000472004.5:n.71C>A
ENST00000496048.1:n.223C>A
NM_001161587.1:c.1124C>A NP_001155059.1:p.Ser375Tyr
NM_002103.4:c.1316C>A NP_002094.2:p.Ser439Tyr
NR_027763.1:n.1375C>A
NM_002103.5:c.1316C>A MANE Select NP_002094.2:p.Ser439Tyr
NM_001161587.2:c.1124C>A NP_001155059.1:p.Ser375Tyr
NR_027763.2:n.1331C>A
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