Canonical Allele Identifier: CA373173546
Gene: TOPORS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.32550860C>G , CM000671.2:g.32550860C>G GRCh38
NC_000009.11:g.32550858C>G , CM000671.1:g.32550858C>G GRCh37
NC_000009.10:g.32540858C>G NCBI36
NG_017050.1:g.6765G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360538.7:c.112G>C MANE Select ENSP00000353735.2:p.Gly38Arg
ENST00000680198.1:c.112G>C ENSP00000505143.1:p.Gly38Arg
ENST00000681750.1:c.-131G>C ENSP00000506413.1:n.-131G>C
ENST00000360538.6:c.112G>C ENSP00000353735.2:p.Gly38Arg
ENST00000379858.1:c.3+1574G>C ENSP00000369187.1:n.3+1574G>C
NM_001195622.1:c.3+1574G>C NP_001182551.1:n.3+1574G>C
NM_005802.4:c.112G>C NP_005793.2:p.Gly38Arg
NM_005802.5:c.112G>C MANE Select NP_005793.2:p.Gly38Arg
NM_001195622.2:c.3+1574G>C NP_001182551.1:n.3+1574G>C