Canonical Allele Identifier: CA5020715
Gene: TOPORS HGNC NCBI

Linked Data

ClinVar Variation Id: 744267
ClinVar RCV Id: RCV000920705 RCV003890066
dbSNP Id: rs200003273
ExAC: 9:32550820 C / T
gnomAD v2: 9-32550820-C-T
gnomAD v3: 9-32550822-C-T
gnomAD v4: 9-32550822-C-T
MyVariant Identifiers: chr9:g.32550820C>T (hg19) chr9:g.32550822C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.32550822C>T , CM000671.2:g.32550822C>T GRCh38
NC_000009.11:g.32550820C>T , CM000671.1:g.32550820C>T GRCh37
NC_000009.10:g.32540820C>T NCBI36
NG_017050.1:g.6803G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360538.7:c.150G>A MANE Select ENSP00000353735.2:p.Arg50=
ENST00000680198.1:c.150G>A ENSP00000505143.1:p.Arg50=
ENST00000681750.1:c.-93G>A ENSP00000506413.1:n.-93G>A
ENST00000360538.6:c.150G>A ENSP00000353735.2:p.Arg50=
ENST00000379858.1:c.3+1612G>A ENSP00000369187.1:n.3+1612G>A
NM_001195622.1:c.3+1612G>A NP_001182551.1:n.3+1612G>A
NM_005802.4:c.150G>A NP_005793.2:p.Arg50=
NM_005802.5:c.150G>A MANE Select NP_005793.2:p.Arg50=
NM_001195622.2:c.3+1612G>A NP_001182551.1:n.3+1612G>A
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