Canonical Allele Identifier: CA377450731
Gene: LDB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86716542G>A , CM000672.2:g.86716542G>A GRCh38
NC_000010.10:g.88476299G>A , CM000672.1:g.88476299G>A GRCh37
NC_000010.9:g.88466279G>A NCBI36
NG_008876.1:g.52979G>A , LRG_385:g.52979G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000687154.1:n.515-2185G>A
ENST00000688001.1:c.1258G>A ENSP00000508987.1:p.Glu420Lys
ENST00000689296.1:c.1258G>A ENSP00000510609.1:p.Glu420Lys
ENST00000689740.1:c.1306G>A ENSP00000510300.1:p.Glu436Lys
ENST00000693680.1:c.1306G>A ENSP00000509539.1:p.Glu436Lys
ENST00000361373.9:c.1447G>A MANE Select ENSP00000355296.3:p.Glu483Lys
ENST00000429277.7:c.1117G>A ENSP00000401437.3:p.Glu373Lys
ENST00000623056.4:c.1462G>A ENSP00000485500.1:p.Glu488Lys
ENST00000263066.10:c.1117G>A ENSP00000263066.6:p.Glu373Lys
ENST00000361373.8:c.1447G>A ENSP00000355296.3:p.Glu483Lys
ENST00000429277.6:c.1462G>A ENSP00000401437.2:p.Glu488Lys
ENST00000623056.3:c.1462G>A ENSP00000485500.1:p.Glu488Lys
NM_001080114.1:c.1117G>A NP_001073583.1:p.Glu373Lys
NM_001171610.1:c.1462G>A NP_001165081.1:p.Glu488Lys
NM_007078.2:c.1447G>A , LRG_385t1:c.1447G>A NP_009009.1:p.Glu483Lys
XM_005269464.3:c.1447G>A XP_005269521.1:p.Glu483Lys
XM_005269466.3:c.1258G>A XP_005269523.1:p.Glu420Lys
XM_011539184.1:c.1699G>A XP_011537486.1:p.Glu567Lys
XM_011539185.1:c.1699G>A XP_011537487.1:p.Glu567Lys
XM_011539186.1:c.1651G>A XP_011537488.1:p.Glu551Lys
XM_011539187.1:c.1510G>A XP_011537489.1:p.Glu504Lys
XM_011539188.1:c.1495G>A XP_011537490.1:p.Glu499Lys
XM_011539189.1:c.1354G>A XP_011537491.1:p.Glu452Lys
XM_011539190.1:c.1306G>A XP_011537492.1:p.Glu436Lys
XM_011539191.1:c.1165G>A XP_011537493.1:p.Glu389Lys
XM_011539192.1:c.1150G>A XP_011537494.1:p.Glu384Lys
XM_011539193.1:c.655G>A XP_011537495.1:p.Glu219Lys
XM_011539194.1:c.466G>A XP_011537496.1:p.Glu156Lys
XM_005269464.4:c.1447G>A XP_005269521.1:p.Glu483Lys
XM_005269466.4:c.1258G>A XP_005269523.1:p.Glu420Lys
XM_011539184.2:c.1699G>A XP_011537486.1:p.Glu567Lys
XM_011539185.2:c.1699G>A XP_011537487.1:p.Glu567Lys
XM_011539186.2:c.1651G>A XP_011537488.1:p.Glu551Lys
XM_011539187.2:c.1510G>A XP_011537489.1:p.Glu504Lys
XM_011539188.2:c.1495G>A XP_011537490.1:p.Glu499Lys
XM_011539190.2:c.1306G>A XP_011537492.1:p.Glu436Lys
XM_011539191.2:c.1165G>A XP_011537493.1:p.Glu389Lys
XM_017015606.1:c.1495G>A XP_016871095.1:p.Glu499Lys
XM_017015607.1:c.655G>A XP_016871096.1:p.Glu219Lys
XM_024447785.1:c.1354G>A XP_024303553.1:p.Glu452Lys
XM_024447786.1:c.1117G>A XP_024303554.1:p.Glu373Lys
NM_001080114.2:c.1117G>A NP_001073583.1:p.Glu373Lys
NM_001171610.2:c.1462G>A NP_001165081.1:p.Glu488Lys
NM_001368064.1:c.1258G>A NP_001354993.1:p.Glu420Lys
NM_001368065.1:c.1258G>A NP_001354994.1:p.Glu420Lys
NM_001368066.1:c.1306G>A NP_001354995.1:p.Glu436Lys
NM_007078.3:c.1447G>A MANE Select NP_009009.1:p.Glu483Lys