Canonical Allele Identifier: CA377451391
Gene: LDB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86716675A>T , CM000672.2:g.86716675A>T GRCh38
NC_000010.10:g.88476432A>T , CM000672.1:g.88476432A>T GRCh37
NC_000010.9:g.88466412A>T NCBI36
NG_008876.1:g.53112A>T , LRG_385:g.53112A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000687154.1:n.515-2052A>T
ENST00000688001.1:c.1391A>T ENSP00000508987.1:p.Gln464Leu
ENST00000689296.1:c.1391A>T ENSP00000510609.1:p.Gln464Leu
ENST00000689740.1:c.1439A>T ENSP00000510300.1:p.Gln480Leu
ENST00000693680.1:c.1439A>T ENSP00000509539.1:p.Gln480Leu
ENST00000361373.9:c.1580A>T MANE Select ENSP00000355296.3:p.Gln527Leu
ENST00000429277.7:c.1250A>T ENSP00000401437.3:p.Gln417Leu
ENST00000623056.4:c.1595A>T ENSP00000485500.1:p.Gln532Leu
ENST00000263066.10:c.1250A>T ENSP00000263066.6:p.Gln417Leu
ENST00000361373.8:c.1580A>T ENSP00000355296.3:p.Gln527Leu
ENST00000429277.6:c.1595A>T ENSP00000401437.2:p.Gln532Leu
ENST00000623056.3:c.1595A>T ENSP00000485500.1:p.Gln532Leu
NM_001080114.1:c.1250A>T NP_001073583.1:p.Gln417Leu
NM_001171610.1:c.1595A>T NP_001165081.1:p.Gln532Leu
NM_007078.2:c.1580A>T , LRG_385t1:c.1580A>T NP_009009.1:p.Gln527Leu
XM_005269464.3:c.1580A>T XP_005269521.1:p.Gln527Leu
XM_005269466.3:c.1391A>T XP_005269523.1:p.Gln464Leu
XM_011539184.1:c.1832A>T XP_011537486.1:p.Gln611Leu
XM_011539185.1:c.1832A>T XP_011537487.1:p.Gln611Leu
XM_011539186.1:c.1784A>T XP_011537488.1:p.Gln595Leu
XM_011539187.1:c.1643A>T XP_011537489.1:p.Gln548Leu
XM_011539188.1:c.1628A>T XP_011537490.1:p.Gln543Leu
XM_011539189.1:c.1487A>T XP_011537491.1:p.Gln496Leu
XM_011539190.1:c.1439A>T XP_011537492.1:p.Gln480Leu
XM_011539191.1:c.1298A>T XP_011537493.1:p.Gln433Leu
XM_011539192.1:c.1283A>T XP_011537494.1:p.Gln428Leu
XM_011539193.1:c.788A>T XP_011537495.1:p.Gln263Leu
XM_011539194.1:c.599A>T XP_011537496.1:p.Gln200Leu
XM_005269464.4:c.1580A>T XP_005269521.1:p.Gln527Leu
XM_005269466.4:c.1391A>T XP_005269523.1:p.Gln464Leu
XM_011539184.2:c.1832A>T XP_011537486.1:p.Gln611Leu
XM_011539185.2:c.1832A>T XP_011537487.1:p.Gln611Leu
XM_011539186.2:c.1784A>T XP_011537488.1:p.Gln595Leu
XM_011539187.2:c.1643A>T XP_011537489.1:p.Gln548Leu
XM_011539188.2:c.1628A>T XP_011537490.1:p.Gln543Leu
XM_011539190.2:c.1439A>T XP_011537492.1:p.Gln480Leu
XM_011539191.2:c.1298A>T XP_011537493.1:p.Gln433Leu
XM_017015606.1:c.1628A>T XP_016871095.1:p.Gln543Leu
XM_017015607.1:c.788A>T XP_016871096.1:p.Gln263Leu
XM_024447785.1:c.1487A>T XP_024303553.1:p.Gln496Leu
XM_024447786.1:c.1250A>T XP_024303554.1:p.Gln417Leu
NM_001080114.2:c.1250A>T NP_001073583.1:p.Gln417Leu
NM_001171610.2:c.1595A>T NP_001165081.1:p.Gln532Leu
NM_001368064.1:c.1391A>T NP_001354993.1:p.Gln464Leu
NM_001368065.1:c.1391A>T NP_001354994.1:p.Gln464Leu
NM_001368066.1:c.1439A>T NP_001354995.1:p.Gln480Leu
NM_007078.3:c.1580A>T MANE Select NP_009009.1:p.Gln527Leu