Canonical Allele Identifier: CA373173358
Gene: TOPORS HGNC NCBI

Linked Data

ClinVar Variation Id: 3028149
ClinVar RCV Id: RCV003889519
gnomAD v4: 9-32550808-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.32550808C>T , CM000671.2:g.32550808C>T GRCh38
NC_000009.11:g.32550806C>T , CM000671.1:g.32550806C>T GRCh37
NC_000009.10:g.32540806C>T NCBI36
NG_017050.1:g.6817G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360538.7:c.164G>A MANE Select ENSP00000353735.2:p.Ser55Asn
ENST00000680198.1:c.164G>A ENSP00000505143.1:p.Ser55Asn
ENST00000681750.1:c.-79G>A ENSP00000506413.1:n.-79G>A
ENST00000360538.6:c.164G>A ENSP00000353735.2:p.Ser55Asn
ENST00000379858.1:c.3+1626G>A ENSP00000369187.1:n.3+1626G>A
NM_001195622.1:c.3+1626G>A NP_001182551.1:n.3+1626G>A
NM_005802.4:c.164G>A NP_005793.2:p.Ser55Asn
NM_005802.5:c.164G>A MANE Select NP_005793.2:p.Ser55Asn
NM_001195622.2:c.3+1626G>A NP_001182551.1:n.3+1626G>A