Canonical Allele Identifier: CA373173838
Gene: TOPORS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.32550944G>T , CM000671.2:g.32550944G>T GRCh38
NC_000009.11:g.32550942G>T , CM000671.1:g.32550942G>T GRCh37
NC_000009.10:g.32540942G>T NCBI36
NG_017050.1:g.6681C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360538.7:c.28C>A MANE Select ENSP00000353735.2:p.Pro10Thr
ENST00000680198.1:c.28C>A ENSP00000505143.1:p.Pro10Thr
ENST00000681750.1:c.-215C>A ENSP00000506413.1:n.-215C>A
ENST00000360538.6:c.28C>A ENSP00000353735.2:p.Pro10Thr
ENST00000379858.1:c.3+1490C>A ENSP00000369187.1:n.3+1490C>A
NM_001195622.1:c.3+1490C>A NP_001182551.1:n.3+1490C>A
NM_005802.4:c.28C>A NP_005793.2:p.Pro10Thr
NM_005802.5:c.28C>A MANE Select NP_005793.2:p.Pro10Thr
NM_001195622.2:c.3+1490C>A NP_001182551.1:n.3+1490C>A