Canonical Allele Identifier: CA9562959
Gene: GYS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1109584
ClinVar RCV Id: RCV001435524
dbSNP Id: rs138480890
ExAC: 19:49477883 C / T
gnomAD v2: 19-49477883-C-T
gnomAD v3: 19-48974626-C-T
gnomAD v4: 19-48974626-C-T
MyVariant Identifiers: chr19:g.49477883C>T (hg19) chr19:g.48974626C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48974626C>T , CM000681.2:g.48974626C>T GRCh38
NC_000019.9:g.49477883C>T , CM000681.1:g.49477883C>T GRCh37
NC_000019.8:g.54169695C>T NCBI36
NG_012923.1:g.23728G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323798.8:c.1416G>A MANE Select ENSP00000317904.3:p.Arg472=
ENST00000263276.6:c.1224G>A ENSP00000263276.6:p.Arg408=
ENST00000323798.7:c.1416G>A ENSP00000317904.3:p.Arg472=
ENST00000472004.5:n.171G>A
ENST00000496048.1:n.323G>A
NM_001161587.1:c.1224G>A NP_001155059.1:p.Arg408=
NM_002103.4:c.1416G>A NP_002094.2:p.Arg472=
NR_027763.1:n.1475G>A
NM_002103.5:c.1416G>A MANE Select NP_002094.2:p.Arg472=
NM_001161587.2:c.1224G>A NP_001155059.1:p.Arg408=
NR_027763.2:n.1431G>A
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