Canonical Allele Identifier: CA373160802

Gene: TOPORS

Linked Data

• MyVariant Identifiers: chr9:g.32541715T>A (hg19) ; chr9:g.32541717T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32541717T>A , CM000671.2:g.32541717T>A	GRCh38
NC_000009.11:g.32541715T>A , CM000671.1:g.32541715T>A	GRCh37
NC_000009.10:g.32531715T>A	NCBI36
NG_017050.1:g.15908A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.2808A>T MANE Select	ENSP00000353735.2:p.Gln936His
ENST00000680198.1:c.198+9057A>T	ENSP00000505143.1:n.198+9057A>T
ENST00000681750.1:c.-45+9057A>T	ENSP00000506413.1:n.-45+9057A>T
ENST00000360538.6:c.2808A>T	ENSP00000353735.2:p.Gln936His
ENST00000379858.1:c.2613A>T	ENSP00000369187.1:p.Gln871His
NM_001195622.1:c.2613A>T	NP_001182551.1:p.Gln871His
NM_005802.4:c.2808A>T	NP_005793.2:p.Gln936His
NM_005802.5:c.2808A>T MANE Select	NP_005793.2:p.Gln936His
NM_001195622.2:c.2613A>T	NP_001182551.1:p.Gln871His