Canonical Allele Identifier: CA373173571
Gene: TOPORS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.32550868C>T , CM000671.2:g.32550868C>T GRCh38
NC_000009.11:g.32550866C>T , CM000671.1:g.32550866C>T GRCh37
NC_000009.10:g.32540866C>T NCBI36
NG_017050.1:g.6757G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360538.7:c.104G>A MANE Select ENSP00000353735.2:p.Arg35His
ENST00000680198.1:c.104G>A ENSP00000505143.1:p.Arg35His
ENST00000681750.1:c.-139G>A ENSP00000506413.1:n.-139G>A
ENST00000360538.6:c.104G>A ENSP00000353735.2:p.Arg35His
ENST00000379858.1:c.3+1566G>A ENSP00000369187.1:n.3+1566G>A
NM_001195622.1:c.3+1566G>A NP_001182551.1:n.3+1566G>A
NM_005802.4:c.104G>A NP_005793.2:p.Arg35His
NM_005802.5:c.104G>A MANE Select NP_005793.2:p.Arg35His
NM_001195622.2:c.3+1566G>A NP_001182551.1:n.3+1566G>A