Canonical Allele Identifier: CA5020720
Gene: TOPORS HGNC NCBI

Linked Data

ClinVar Variation Id: 1399688
ClinVar RCV Id: RCV001917810
dbSNP Id: rs756891203
ExAC: 9:32550846 G / A
gnomAD v2: 9-32550846-G-A
gnomAD v3: 9-32550848-G-A
gnomAD v4: 9-32550848-G-A
MyVariant Identifiers: chr9:g.32550846G>A (hg19) chr9:g.32550848G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.32550848G>A , CM000671.2:g.32550848G>A GRCh38
NC_000009.11:g.32550846G>A , CM000671.1:g.32550846G>A GRCh37
NC_000009.10:g.32540846G>A NCBI36
NG_017050.1:g.6777C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360538.7:c.124C>T MANE Select ENSP00000353735.2:p.His42Tyr
ENST00000680198.1:c.124C>T ENSP00000505143.1:p.His42Tyr
ENST00000681750.1:c.-119C>T ENSP00000506413.1:n.-119C>T
ENST00000360538.6:c.124C>T ENSP00000353735.2:p.His42Tyr
ENST00000379858.1:c.3+1586C>T ENSP00000369187.1:n.3+1586C>T
NM_001195622.1:c.3+1586C>T NP_001182551.1:n.3+1586C>T
NM_005802.4:c.124C>T NP_005793.2:p.His42Tyr
NM_005802.5:c.124C>T MANE Select NP_005793.2:p.His42Tyr
NM_001195622.2:c.3+1586C>T NP_001182551.1:n.3+1586C>T
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