Canonical Allele Identifier: CA9562963
Gene: GYS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 893129
ClinVar RCV Id: RCV001130482
dbSNP Id: rs556352989
ExAC: 19:49477892 A / T
gnomAD v2: 19-49477892-A-T
gnomAD v3: 19-48974635-A-T
gnomAD v4: 19-48974635-A-T
MyVariant Identifiers: chr19:g.49477892A>T (hg19) chr19:g.48974635A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48974635A>T , CM000681.2:g.48974635A>T GRCh38
NC_000019.9:g.49477892A>T , CM000681.1:g.49477892A>T GRCh37
NC_000019.8:g.54169704A>T NCBI36
NG_012923.1:g.23719T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323798.8:c.1407T>A MANE Select ENSP00000317904.3:p.Ser469Arg
ENST00000263276.6:c.1215T>A ENSP00000263276.6:p.Ser405Arg
ENST00000323798.7:c.1407T>A ENSP00000317904.3:p.Ser469Arg
ENST00000472004.5:n.162T>A
ENST00000496048.1:n.314T>A
NM_001161587.1:c.1215T>A NP_001155059.1:p.Ser405Arg
NM_002103.4:c.1407T>A NP_002094.2:p.Ser469Arg
NR_027763.1:n.1466T>A
NM_002103.5:c.1407T>A MANE Select NP_002094.2:p.Ser469Arg
NM_001161587.2:c.1215T>A NP_001155059.1:p.Ser405Arg
NR_027763.2:n.1422T>A
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