Canonical Allele Identifier: CA5020401

Gene: TOPORS

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32542291G>C , CM000671.2:g.32542291G>C	GRCh38
NC_000009.11:g.32542289G>C , CM000671.1:g.32542289G>C	GRCh37
NC_000009.10:g.32532289G>C	NCBI36
NG_017050.1:g.15334C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005802.5:c.2234C>G MANE Select	NP_005793.2:p.Ser745Cys
ENST00000360538.7:c.2234C>G MANE Select	ENSP00000353735.2:p.Ser745Cys
NM_001195622.1:c.2039C>G	NP_001182551.1:p.Ser680Cys
NM_001195622.2:c.2039C>G	NP_001182551.1:p.Ser680Cys
NM_005802.4:c.2234C>G	NP_005793.2:p.Ser745Cys
ENST00000360538.6:c.2234C>G	ENSP00000353735.2:p.Ser745Cys
ENST00000379858.1:c.2039C>G	ENSP00000369187.1:p.Ser680Cys
ENST00000680198.1:c.198+8483C>G	ENSP00000505143.1:n.198+8483C>G
ENST00000681750.1:c.-45+8483C>G	ENSP00000506413.1:n.-45+8483C>G