Canonical Allele Identifier: CA5020700
Gene: TOPORS HGNC NCBI

Linked Data

ClinVar Variation Id: 2015300
ClinVar RCV Id: RCV002839382
dbSNP Id: rs560530251
ExAC: 9:32550772 C / G
gnomAD v2: 9-32550772-C-G
gnomAD v3: 9-32550774-C-G
gnomAD v4: 9-32550774-C-G
MyVariant Identifiers: chr9:g.32550772C>G (hg19) chr9:g.32550774C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.32550774C>G , CM000671.2:g.32550774C>G GRCh38
NC_000009.11:g.32550772C>G , CM000671.1:g.32550772C>G GRCh37
NC_000009.10:g.32540772C>G NCBI36
NG_017050.1:g.6851G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360538.7:c.198G>C MANE Select ENSP00000353735.2:p.Glu66Asp
ENST00000680198.1:c.198G>C ENSP00000505143.1:p.Glu66Asp
ENST00000681750.1:c.-45G>C ENSP00000506413.1:n.-45G>C
ENST00000360538.6:c.198G>C ENSP00000353735.2:p.Glu66Asp
ENST00000379858.1:c.3+1660G>C ENSP00000369187.1:n.3+1660G>C
NM_001195622.1:c.3+1660G>C NP_001182551.1:n.3+1660G>C
NM_005802.4:c.198G>C NP_005793.2:p.Glu66Asp
NM_005802.5:c.198G>C MANE Select NP_005793.2:p.Glu66Asp
NM_001195622.2:c.3+1660G>C NP_001182551.1:n.3+1660G>C
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