Canonical Allele Identifier: CA373173826
Gene: TOPORS HGNC NCBI

Linked Data

dbSNP Id: rs1042454228

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.32550940A>C , CM000671.2:g.32550940A>C GRCh38
NC_000009.11:g.32550938A>C , CM000671.1:g.32550938A>C GRCh37
NC_000009.10:g.32540938A>C NCBI36
NG_017050.1:g.6685T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360538.7:c.32T>G MANE Select ENSP00000353735.2:p.Leu11Arg
ENST00000680198.1:c.32T>G ENSP00000505143.1:p.Leu11Arg
ENST00000681750.1:c.-211T>G ENSP00000506413.1:n.-211T>G
ENST00000360538.6:c.32T>G ENSP00000353735.2:p.Leu11Arg
ENST00000379858.1:c.3+1494T>G ENSP00000369187.1:n.3+1494T>G
NM_001195622.1:c.3+1494T>G NP_001182551.1:n.3+1494T>G
NM_005802.4:c.32T>G NP_005793.2:p.Leu11Arg
NM_005802.5:c.32T>G MANE Select NP_005793.2:p.Leu11Arg
NM_001195622.2:c.3+1494T>G NP_001182551.1:n.3+1494T>G