Canonical Allele Identifier: CA9562984
Gene: GYS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 498163
ClinVar RCV Id: RCV000594334 RCV002532403
dbSNP Id: rs756191455
ExAC: 19:49477981 A / G
gnomAD v2: 19-49477981-A-G
gnomAD v3: 19-48974724-A-G
gnomAD v4: 19-48974724-A-G
MyVariant Identifiers: chr19:g.49477981A>G (hg19) chr19:g.48974724A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48974724A>G , CM000681.2:g.48974724A>G GRCh38
NC_000019.9:g.49477981A>G , CM000681.1:g.49477981A>G GRCh37
NC_000019.8:g.54169793A>G NCBI36
NG_012923.1:g.23630T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000323798.8:c.1318T>C MANE Select ENSP00000317904.3:p.Phe440Leu
ENST00000263276.6:c.1126T>C ENSP00000263276.6:p.Phe376Leu
ENST00000323798.7:c.1318T>C ENSP00000317904.3:p.Phe440Leu
ENST00000472004.5:n.73T>C
ENST00000496048.1:n.225T>C
NM_001161587.1:c.1126T>C NP_001155059.1:p.Phe376Leu
NM_002103.4:c.1318T>C NP_002094.2:p.Phe440Leu
NR_027763.1:n.1377T>C
NM_002103.5:c.1318T>C MANE Select NP_002094.2:p.Phe440Leu
NM_001161587.2:c.1126T>C NP_001155059.1:p.Phe376Leu
NR_027763.2:n.1333T>C
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