Canonical Allele Identifier: CA5020432

Gene: TOPORS

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32542515T>G , CM000671.2:g.32542515T>G	GRCh38
NC_000009.11:g.32542513T>G , CM000671.1:g.32542513T>G	GRCh37
NC_000009.10:g.32532513T>G	NCBI36
NG_017050.1:g.15110A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005802.5:c.2010A>C MANE Select	NP_005793.2:p.Ser670=
ENST00000360538.7:c.2010A>C MANE Select	ENSP00000353735.2:p.Ser670=
NM_001195622.1:c.1815A>C	NP_001182551.1:p.Ser605=
NM_001195622.2:c.1815A>C	NP_001182551.1:p.Ser605=
NM_005802.4:c.2010A>C	NP_005793.2:p.Ser670=
ENST00000360538.6:c.2010A>C	ENSP00000353735.2:p.Ser670=
ENST00000379858.1:c.1815A>C	ENSP00000369187.1:p.Ser605=
ENST00000680198.1:c.198+8259A>C	ENSP00000505143.1:n.198+8259A>C
ENST00000681750.1:c.-45+8259A>C	ENSP00000506413.1:n.-45+8259A>C