Canonical Allele Identifier: CA181292
Gene: LDB3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 4729
dbSNP Id: rs121908335

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86699324C>T , CM000672.2:g.86699324C>T GRCh38
NC_000010.10:g.88459081C>T , CM000672.1:g.88459081C>T GRCh37
NC_000010.9:g.88449061C>T NCBI36
NG_008876.1:g.35761C>T , LRG_385:g.35761C>T

Transcript Alleles

HGVS Amino-acid change
NM_001080114.1:c.755+6753C>T VV NP_001073583.1:p.=
NM_001080115.1:c.943C>T VV NP_001073584.1:p.Arg315Cys
NM_001080116.1:c.802C>T , LRG_385t2:c.802C>T NP_001073585.1:p.Arg268Cys
NM_001171610.1:c.1100+6753C>T VV NP_001165081.1:p.=
NM_001171611.1:c.1147C>T VV NP_001165082.1:p.Arg383Cys
NM_007078.2:c.896+6753C>T , LRG_385t1:c.896+6753C>T NP_009009.1:p.=
XM_005269464.3:c.896+6753C>T XP_005269521.1:p.=
XM_005269466.3:c.896+6753C>T XP_005269523.1:p.=
XM_005269468.3:c.943C>T XP_005269525.1:p.Arg315Cys
XM_011539184.1:c.1100+6753C>T XP_011537486.1:p.=
XM_011539185.1:c.1100+6753C>T XP_011537487.1:p.=
XM_011539186.1:c.1100+6753C>T XP_011537488.1:p.=
XM_011539187.1:c.1100+6753C>T XP_011537489.1:p.=
XM_011539188.1:c.896+6753C>T XP_011537490.1:p.=
XM_011539189.1:c.755+6753C>T XP_011537491.1:p.=
XM_011539190.1:c.755+6753C>T XP_011537492.1:p.=
XM_011539191.1:c.566+6753C>T XP_011537493.1:p.=
XM_011539192.1:c.551+6753C>T XP_011537494.1:p.=
XM_011539193.1:c.56+6753C>T XP_011537495.1:p.=
XM_011539194.1:c.56+6753C>T XP_011537496.1:p.=
XM_011539195.1:c.1147C>T XP_011537497.1:p.Arg383Cys
XM_005269464.4:c.896+6753C>T
XM_005269466.4:c.896+6753C>T
XM_005269468.4:c.943C>T
XM_011539184.2:c.1100+6753C>T
XM_011539185.2:c.1100+6753C>T
XM_011539186.2:c.1100+6753C>T
XM_011539187.2:c.1100+6753C>T
XM_011539188.2:c.896+6753C>T
XM_011539190.2:c.755+6753C>T
XM_011539191.2:c.566+6753C>T
XM_011539195.2:c.1147C>T
XM_017015606.1:c.896+6753C>T XP_016871095.1:p.=
XM_017015607.1:c.56+6753C>T XP_016871096.1:p.=
XM_017015608.1:c.943C>T XP_016871097.1:p.Arg315Cys
XM_017015609.1:c.802C>T XP_016871098.1:p.Arg268Cys
XM_024447785.1:c.755+6753C>T XP_024303553.1:p.=
XM_024447786.1:c.755+6753C>T XP_024303554.1:p.=
XM_024447787.1:c.802C>T XP_024303555.1:p.Arg268Cys
ENST00000263066.10:n.755+6753C>T ENSP00000263066.6:p.=
ENST00000361373.8:c.896+6753C>T ENSP00000355296.3:p.=
ENST00000372056.8:n.1147C>T ENSP00000361126.4:p.Arg383Cys
ENST00000372066.7:c.802C>T ENSP00000361136.3:p.Arg268Cys
ENST00000429277.6:c.1100+6753C>T ENSP00000401437.2:p.=
ENST00000542786.1:n.1170C>T ENSP00000438866.1:p.=
ENST00000623007.3:n.943C>T ENSP00000485389.1:p.Arg315Cys
ENST00000623056.3:c.1100+6753C>T ENSP00000485500.1:p.=