Canonical Allele Identifier: CA5020698
Gene: TOPORS HGNC NCBI

Linked Data

ClinVar Variation Id: 1147307
ClinVar RCV Id: RCV001486806
dbSNP Id: rs377163608
ExAC: 9:32550764 T / C
gnomAD v2: 9-32550764-T-C
gnomAD v3: 9-32550766-T-C
gnomAD v4: 9-32550766-T-C
MyVariant Identifiers: chr9:g.32550764T>C (hg19) chr9:g.32550766T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.32550766T>C , CM000671.2:g.32550766T>C GRCh38
NC_000009.11:g.32550764T>C , CM000671.1:g.32550764T>C GRCh37
NC_000009.10:g.32540764T>C NCBI36
NG_017050.1:g.6859A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360538.7:c.198+8A>G MANE Select ENSP00000353735.2:n.198+8A>G
ENST00000680198.1:c.198+8A>G ENSP00000505143.1:n.198+8A>G
ENST00000681750.1:c.-45+8A>G ENSP00000506413.1:n.-45+8A>G
ENST00000360538.6:c.198+8A>G ENSP00000353735.2:n.198+8A>G
ENST00000379858.1:c.3+1668A>G ENSP00000369187.1:n.3+1668A>G
NM_001195622.1:c.3+1668A>G NP_001182551.1:n.3+1668A>G
NM_005802.4:c.198+8A>G NP_005793.2:n.198+8A>G
NM_005802.5:c.198+8A>G MANE Select NP_005793.2:n.198+8A>G
NM_001195622.2:c.3+1668A>G NP_001182551.1:n.3+1668A>G
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