Canonical Allele Identifier: CA373173464
Gene: TOPORS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.32550837G>C , CM000671.2:g.32550837G>C GRCh38
NC_000009.11:g.32550835G>C , CM000671.1:g.32550835G>C GRCh37
NC_000009.10:g.32540835G>C NCBI36
NG_017050.1:g.6788C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360538.7:c.135C>G MANE Select ENSP00000353735.2:p.Ser45Arg
ENST00000680198.1:c.135C>G ENSP00000505143.1:p.Ser45Arg
ENST00000681750.1:c.-108C>G ENSP00000506413.1:n.-108C>G
ENST00000360538.6:c.135C>G ENSP00000353735.2:p.Ser45Arg
ENST00000379858.1:c.3+1597C>G ENSP00000369187.1:n.3+1597C>G
NM_001195622.1:c.3+1597C>G NP_001182551.1:n.3+1597C>G
NM_005802.4:c.135C>G NP_005793.2:p.Ser45Arg
NM_005802.5:c.135C>G MANE Select NP_005793.2:p.Ser45Arg
NM_001195622.2:c.3+1597C>G NP_001182551.1:n.3+1597C>G