Canonical Allele Identifier: CA5020561

Gene: TOPORS

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32543355T>A , CM000671.2:g.32543355T>A	GRCh38
NC_000009.11:g.32543353T>A , CM000671.1:g.32543353T>A	GRCh37
NC_000009.10:g.32533353T>A	NCBI36
NG_017050.1:g.14270A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005802.5:c.1170A>T MANE Select	NP_005793.2:p.Ser390=
ENST00000360538.7:c.1170A>T MANE Select	ENSP00000353735.2:p.Ser390=
NM_001195622.1:c.975A>T	NP_001182551.1:p.Ser325=
NM_001195622.2:c.975A>T	NP_001182551.1:p.Ser325=
NM_005802.4:c.1170A>T	NP_005793.2:p.Ser390=
ENST00000360538.6:c.1170A>T	ENSP00000353735.2:p.Ser390=
ENST00000379858.1:c.975A>T	ENSP00000369187.1:p.Ser325=
ENST00000680198.1:c.198+7419A>T	ENSP00000505143.1:n.198+7419A>T
ENST00000681750.1:c.-45+7419A>T	ENSP00000506413.1:n.-45+7419A>T