Canonical Allele Identifier: CA10125725
Gene: TOP3B HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.21963974C>T , CM000684.2:g.21963974C>T GRCh38
NC_000022.10:g.22318346C>T , CM000684.1:g.22318346C>T GRCh37
NC_000022.9:g.20648346C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000357179.10:c.1153G>A MANE Select ENSP00000349705.5:p.Gly385Ser
ENST00000357179.9:c.1153G>A ENSP00000349705.5:p.Gly385Ser
ENST00000398793.6:c.1153G>A ENSP00000381773.2:p.Gly385Ser
ENST00000436282.1:c.349G>A ENSP00000416451.1:p.Gly117Ser
ENST00000444502.5:c.*845G>A ENSP00000392480.1:n.*845G>A
ENST00000457179.5:c.*845G>A ENSP00000397221.1:n.*845G>A
ENST00000457270.5:c.537G>A
NM_001282112.1:c.1153G>A NP_001269041.1:p.Gly385Ser
NM_001282113.1:c.1153G>A NP_001269042.1:p.Gly385Ser
NM_003935.4:c.1153G>A NP_003926.1:p.Gly385Ser
XM_005261811.1:c.1153G>A XP_005261868.1:p.Gly385Ser
XM_005261813.1:c.745G>A XP_005261870.1:p.Gly249Ser
XM_006724349.1:c.1153G>A XP_006724412.1:p.Gly385Ser
XM_006724350.1:c.1153G>A XP_006724413.1:p.Gly385Ser
XM_011530482.1:c.1153G>A XP_011528784.1:p.Gly385Ser
XM_011530483.1:c.1153G>A XP_011528785.1:p.Gly385Ser
XM_011530484.1:c.1153G>A XP_011528786.1:p.Gly385Ser
XR_244395.1:n.1344G>A
XR_937945.1:n.1344G>A
XR_937946.1:n.1344G>A
NM_001349845.1:c.1153G>A NP_001336774.1:p.Gly385Ser
NM_001349847.1:c.1153G>A NP_001336776.1:p.Gly385Ser
NM_001349848.1:c.745G>A NP_001336777.1:p.Gly249Ser
NM_001349850.1:c.745G>A NP_001336779.1:p.Gly249Ser
NM_001349851.1:c.745G>A NP_001336780.1:p.Gly249Ser
NM_001349852.1:c.745G>A NP_001336781.1:p.Gly249Ser
NR_146277.1:n.1447G>A
XM_017029038.2:c.1153G>A XP_016884527.1:p.Gly385Ser
XM_024452297.1:c.1153G>A XP_024308065.1:p.Gly385Ser
XR_001755352.2:n.1335G>A
XR_001755353.2:n.1335G>A
XR_001755354.2:n.1335G>A
XR_001755355.2:n.1335G>A
XR_001755357.2:n.1388G>A
XR_001755359.1:n.1342G>A
XR_937946.2:n.1335G>A
NM_001282112.2:c.1153G>A MANE Select NP_001269041.1:p.Gly385Ser
NM_001282113.2:c.1153G>A NP_001269042.1:p.Gly385Ser
NM_001349845.2:c.1153G>A NP_001336774.1:p.Gly385Ser
NM_001349847.2:c.1153G>A NP_001336776.1:p.Gly385Ser
NM_001349848.2:c.745G>A NP_001336777.1:p.Gly249Ser
NM_001349850.2:c.745G>A NP_001336779.1:p.Gly249Ser
NM_001349851.2:c.745G>A NP_001336780.1:p.Gly249Ser
NM_001349852.2:c.745G>A NP_001336781.1:p.Gly249Ser
NM_003935.5:c.1153G>A NP_003926.1:p.Gly385Ser
NR_146277.2:n.1391G>A