Canonical Allele Identifier: CA464295235
Gene: TOPORS HGNC NCBI

Linked Data

ClinVar Variation Id: 2020482
ClinVar RCV Id: RCV002857311
dbSNP Id: rs1366648700
gnomAD v2: 9-32550817-C-T
gnomAD v4: 9-32550819-C-T
MyVariant Identifiers: chr9:g.32550817C>T (hg19) chr9:g.32550819C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.32550819C>T , CM000671.2:g.32550819C>T GRCh38
NC_000009.11:g.32550817C>T , CM000671.1:g.32550817C>T GRCh37
NC_000009.10:g.32540817C>T NCBI36
NG_017050.1:g.6806G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360538.7:c.153G>A MANE Select ENSP00000353735.2:p.Glu51=
ENST00000680198.1:c.153G>A ENSP00000505143.1:p.Glu51=
ENST00000681750.1:c.-90G>A ENSP00000506413.1:n.-90G>A
ENST00000360538.6:c.153G>A ENSP00000353735.2:p.Glu51=
ENST00000379858.1:c.3+1615G>A ENSP00000369187.1:n.3+1615G>A
NM_001195622.1:c.3+1615G>A NP_001182551.1:n.3+1615G>A
NM_005802.4:c.153G>A NP_005793.2:p.Glu51=
NM_005802.5:c.153G>A MANE Select NP_005793.2:p.Glu51=
NM_001195622.2:c.3+1615G>A NP_001182551.1:n.3+1615G>A
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