Canonical Allele Identifier: CA2689683500

Gene: TOPORS

Linked Data

• gnomAD v4: 9-32550741-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32550741C>T , CM000671.2:g.32550741C>T	GRCh38
NC_000009.11:g.32550739C>T , CM000671.1:g.32550739C>T	GRCh37
NC_000009.10:g.32540739C>T	NCBI36
NG_017050.1:g.6884G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.198+33G>A MANE Select	ENSP00000353735.2:n.198+33G>A
ENST00000680198.1:c.198+33G>A	ENSP00000505143.1:n.198+33G>A
ENST00000681750.1:c.-45+33G>A	ENSP00000506413.1:n.-45+33G>A
ENST00000360538.6:c.198+33G>A	ENSP00000353735.2:n.198+33G>A
ENST00000379858.1:c.3+1693G>A	ENSP00000369187.1:n.3+1693G>A
NM_001195622.1:c.3+1693G>A	NP_001182551.1:n.3+1693G>A
NM_005802.4:c.198+33G>A	NP_005793.2:n.198+33G>A
NM_005802.5:c.198+33G>A MANE Select	NP_005793.2:n.198+33G>A
NM_001195622.2:c.3+1693G>A	NP_001182551.1:n.3+1693G>A