Canonical Allele Identifier: CA373171769

Gene: TOPORS

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32543683A>T , CM000671.2:g.32543683A>T	GRCh38
NC_000009.11:g.32543681A>T , CM000671.1:g.32543681A>T	GRCh37
NC_000009.10:g.32533681A>T	NCBI36
NG_017050.1:g.13942T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.842T>A MANE Select	ENSP00000353735.2:p.Ile281Asn
ENST00000680198.1:c.198+7091T>A	ENSP00000505143.1:n.198+7091T>A
ENST00000681750.1:c.-45+7091T>A	ENSP00000506413.1:n.-45+7091T>A
ENST00000360538.6:c.842T>A	ENSP00000353735.2:p.Ile281Asn
ENST00000379858.1:c.647T>A	ENSP00000369187.1:p.Ile216Asn
NM_001195622.1:c.647T>A	NP_001182551.1:p.Ile216Asn
NM_005802.4:c.842T>A	NP_005793.2:p.Ile281Asn
NM_005802.5:c.842T>A MANE Select	NP_005793.2:p.Ile281Asn
NM_001195622.2:c.647T>A	NP_001182551.1:p.Ile216Asn