Canonical Allele Identifier: CA373173429
Gene: TOPORS HGNC NCBI

Linked Data

gnomAD v4: 9-32550827-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.32550827A>G , CM000671.2:g.32550827A>G GRCh38
NC_000009.11:g.32550825A>G , CM000671.1:g.32550825A>G GRCh37
NC_000009.10:g.32540825A>G NCBI36
NG_017050.1:g.6798T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360538.7:c.145T>C MANE Select ENSP00000353735.2:p.Cys49Arg
ENST00000680198.1:c.145T>C ENSP00000505143.1:p.Cys49Arg
ENST00000681750.1:c.-98T>C ENSP00000506413.1:n.-98T>C
ENST00000360538.6:c.145T>C ENSP00000353735.2:p.Cys49Arg
ENST00000379858.1:c.3+1607T>C ENSP00000369187.1:n.3+1607T>C
NM_001195622.1:c.3+1607T>C NP_001182551.1:n.3+1607T>C
NM_005802.4:c.145T>C NP_005793.2:p.Cys49Arg
NM_005802.5:c.145T>C MANE Select NP_005793.2:p.Cys49Arg
NM_001195622.2:c.3+1607T>C NP_001182551.1:n.3+1607T>C