Canonical Allele Identifier: CA377451576
Gene: LDB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86716705A>T , CM000672.2:g.86716705A>T GRCh38
NC_000010.10:g.88476462A>T , CM000672.1:g.88476462A>T GRCh37
NC_000010.9:g.88466442A>T NCBI36
NG_008876.1:g.53142A>T , LRG_385:g.53142A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000687154.1:n.515-2022A>T
ENST00000688001.1:c.1421A>T ENSP00000508987.1:p.Gln474Leu
ENST00000689296.1:c.1421A>T ENSP00000510609.1:p.Gln474Leu
ENST00000689740.1:c.1469A>T ENSP00000510300.1:p.Gln490Leu
ENST00000693680.1:c.1469A>T ENSP00000509539.1:p.Gln490Leu
ENST00000361373.9:c.1610A>T MANE Select ENSP00000355296.3:p.Gln537Leu
ENST00000429277.7:c.1280A>T ENSP00000401437.3:p.Gln427Leu
ENST00000623056.4:c.1625A>T ENSP00000485500.1:p.Gln542Leu
ENST00000263066.10:c.1280A>T ENSP00000263066.6:p.Gln427Leu
ENST00000361373.8:c.1610A>T ENSP00000355296.3:p.Gln537Leu
ENST00000429277.6:c.1625A>T ENSP00000401437.2:p.Gln542Leu
ENST00000623056.3:c.1625A>T ENSP00000485500.1:p.Gln542Leu
NM_001080114.1:c.1280A>T NP_001073583.1:p.Gln427Leu
NM_001171610.1:c.1625A>T NP_001165081.1:p.Gln542Leu
NM_007078.2:c.1610A>T , LRG_385t1:c.1610A>T NP_009009.1:p.Gln537Leu
XM_005269464.3:c.1610A>T XP_005269521.1:p.Gln537Leu
XM_005269466.3:c.1421A>T XP_005269523.1:p.Gln474Leu
XM_011539184.1:c.1862A>T XP_011537486.1:p.Gln621Leu
XM_011539185.1:c.1862A>T XP_011537487.1:p.Gln621Leu
XM_011539186.1:c.1814A>T XP_011537488.1:p.Gln605Leu
XM_011539187.1:c.1673A>T XP_011537489.1:p.Gln558Leu
XM_011539188.1:c.1658A>T XP_011537490.1:p.Gln553Leu
XM_011539189.1:c.1517A>T XP_011537491.1:p.Gln506Leu
XM_011539190.1:c.1469A>T XP_011537492.1:p.Gln490Leu
XM_011539191.1:c.1328A>T XP_011537493.1:p.Gln443Leu
XM_011539192.1:c.1313A>T XP_011537494.1:p.Gln438Leu
XM_011539193.1:c.818A>T XP_011537495.1:p.Gln273Leu
XM_011539194.1:c.629A>T XP_011537496.1:p.Gln210Leu
XM_005269464.4:c.1610A>T XP_005269521.1:p.Gln537Leu
XM_005269466.4:c.1421A>T XP_005269523.1:p.Gln474Leu
XM_011539184.2:c.1862A>T XP_011537486.1:p.Gln621Leu
XM_011539185.2:c.1862A>T XP_011537487.1:p.Gln621Leu
XM_011539186.2:c.1814A>T XP_011537488.1:p.Gln605Leu
XM_011539187.2:c.1673A>T XP_011537489.1:p.Gln558Leu
XM_011539188.2:c.1658A>T XP_011537490.1:p.Gln553Leu
XM_011539190.2:c.1469A>T XP_011537492.1:p.Gln490Leu
XM_011539191.2:c.1328A>T XP_011537493.1:p.Gln443Leu
XM_017015606.1:c.1658A>T XP_016871095.1:p.Gln553Leu
XM_017015607.1:c.818A>T XP_016871096.1:p.Gln273Leu
XM_024447785.1:c.1517A>T XP_024303553.1:p.Gln506Leu
XM_024447786.1:c.1280A>T XP_024303554.1:p.Gln427Leu
NM_001080114.2:c.1280A>T NP_001073583.1:p.Gln427Leu
NM_001171610.2:c.1625A>T NP_001165081.1:p.Gln542Leu
NM_001368064.1:c.1421A>T NP_001354993.1:p.Gln474Leu
NM_001368065.1:c.1421A>T NP_001354994.1:p.Gln474Leu
NM_001368066.1:c.1469A>T NP_001354995.1:p.Gln490Leu
NM_007078.3:c.1610A>T MANE Select NP_009009.1:p.Gln537Leu