Canonical Allele Identifier: CA2580080334

Gene: TOPORS

Linked Data

• ClinVar Variation Id: 2092853
• ClinVar RCV Id: RCV002996667

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32550770T>C , CM000671.2:g.32550770T>C	GRCh38
NC_000009.11:g.32550768T>C , CM000671.1:g.32550768T>C	GRCh37
NC_000009.10:g.32540768T>C	NCBI36
NG_017050.1:g.6855A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.198+4A>G MANE Select	ENSP00000353735.2:n.198+4A>G
ENST00000680198.1:c.198+4A>G	ENSP00000505143.1:n.198+4A>G
ENST00000681750.1:c.-45+4A>G	ENSP00000506413.1:n.-45+4A>G
ENST00000360538.6:c.198+4A>G	ENSP00000353735.2:n.198+4A>G
ENST00000379858.1:c.3+1664A>G	ENSP00000369187.1:n.3+1664A>G
NM_001195622.1:c.3+1664A>G	NP_001182551.1:n.3+1664A>G
NM_005802.4:c.198+4A>G	NP_005793.2:n.198+4A>G
NM_005802.5:c.198+4A>G MANE Select	NP_005793.2:n.198+4A>G
NM_001195622.2:c.3+1664A>G	NP_001182551.1:n.3+1664A>G