Canonical Allele Identifier: CA373173684
Gene: TOPORS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.32550901G>C , CM000671.2:g.32550901G>C GRCh38
NC_000009.11:g.32550899G>C , CM000671.1:g.32550899G>C GRCh37
NC_000009.10:g.32540899G>C NCBI36
NG_017050.1:g.6724C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360538.7:c.71C>G MANE Select ENSP00000353735.2:p.Ala24Gly
ENST00000680198.1:c.71C>G ENSP00000505143.1:p.Ala24Gly
ENST00000681750.1:c.-172C>G ENSP00000506413.1:n.-172C>G
ENST00000360538.6:c.71C>G ENSP00000353735.2:p.Ala24Gly
ENST00000379858.1:c.3+1533C>G ENSP00000369187.1:n.3+1533C>G
NM_001195622.1:c.3+1533C>G NP_001182551.1:n.3+1533C>G
NM_005802.4:c.71C>G NP_005793.2:p.Ala24Gly
NM_005802.5:c.71C>G MANE Select NP_005793.2:p.Ala24Gly
NM_001195622.2:c.3+1533C>G NP_001182551.1:n.3+1533C>G