Canonical Allele Identifier: CA5585179

Gene: LDB3

Linked Data

• dbSNP Id: rs775079950
• ExAC: 10:88476389 A / G
• gnomAD v2: 10-88476389-A-G
• gnomAD v4: 10-86716632-A-G
• MyVariant Identifiers: chr10:g.88476389A>G (hg19) ; chr10:g.86716632A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86716632A>G , CM000672.2:g.86716632A>G	GRCh38
NC_000010.10:g.88476389A>G , CM000672.1:g.88476389A>G	GRCh37
NC_000010.9:g.88466369A>G	NCBI36
NG_008876.1:g.53069A>G , LRG_385:g.53069A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687154.1:n.515-2095A>G
ENST00000688001.1:c.1348A>G	ENSP00000508987.1:p.Thr450Ala
ENST00000689296.1:c.1348A>G	ENSP00000510609.1:p.Thr450Ala
ENST00000689740.1:c.1396A>G	ENSP00000510300.1:p.Thr466Ala
ENST00000693680.1:c.1396A>G	ENSP00000509539.1:p.Thr466Ala
ENST00000361373.9:c.1537A>G MANE Select	ENSP00000355296.3:p.Thr513Ala
ENST00000429277.7:c.1207A>G	ENSP00000401437.3:p.Thr403Ala
ENST00000623056.4:c.1552A>G	ENSP00000485500.1:p.Thr518Ala
ENST00000263066.10:c.1207A>G	ENSP00000263066.6:p.Thr403Ala
ENST00000361373.8:c.1537A>G	ENSP00000355296.3:p.Thr513Ala
ENST00000429277.6:c.1552A>G	ENSP00000401437.2:p.Thr518Ala
ENST00000623056.3:c.1552A>G	ENSP00000485500.1:p.Thr518Ala
NM_001080114.1:c.1207A>G	NP_001073583.1:p.Thr403Ala
NM_001171610.1:c.1552A>G	NP_001165081.1:p.Thr518Ala
NM_007078.2:c.1537A>G , LRG_385t1:c.1537A>G	NP_009009.1:p.Thr513Ala
XM_005269464.3:c.1537A>G	XP_005269521.1:p.Thr513Ala
XM_005269466.3:c.1348A>G	XP_005269523.1:p.Thr450Ala
XM_011539184.1:c.1789A>G	XP_011537486.1:p.Thr597Ala
XM_011539185.1:c.1789A>G	XP_011537487.1:p.Thr597Ala
XM_011539186.1:c.1741A>G	XP_011537488.1:p.Thr581Ala
XM_011539187.1:c.1600A>G	XP_011537489.1:p.Thr534Ala
XM_011539188.1:c.1585A>G	XP_011537490.1:p.Thr529Ala
XM_011539189.1:c.1444A>G	XP_011537491.1:p.Thr482Ala
XM_011539190.1:c.1396A>G	XP_011537492.1:p.Thr466Ala
XM_011539191.1:c.1255A>G	XP_011537493.1:p.Thr419Ala
XM_011539192.1:c.1240A>G	XP_011537494.1:p.Thr414Ala
XM_011539193.1:c.745A>G	XP_011537495.1:p.Thr249Ala
XM_011539194.1:c.556A>G	XP_011537496.1:p.Thr186Ala
XM_005269464.4:c.1537A>G	XP_005269521.1:p.Thr513Ala
XM_005269466.4:c.1348A>G	XP_005269523.1:p.Thr450Ala
XM_011539184.2:c.1789A>G	XP_011537486.1:p.Thr597Ala
XM_011539185.2:c.1789A>G	XP_011537487.1:p.Thr597Ala
XM_011539186.2:c.1741A>G	XP_011537488.1:p.Thr581Ala
XM_011539187.2:c.1600A>G	XP_011537489.1:p.Thr534Ala
XM_011539188.2:c.1585A>G	XP_011537490.1:p.Thr529Ala
XM_011539190.2:c.1396A>G	XP_011537492.1:p.Thr466Ala
XM_011539191.2:c.1255A>G	XP_011537493.1:p.Thr419Ala
XM_017015606.1:c.1585A>G	XP_016871095.1:p.Thr529Ala
XM_017015607.1:c.745A>G	XP_016871096.1:p.Thr249Ala
XM_024447785.1:c.1444A>G	XP_024303553.1:p.Thr482Ala
XM_024447786.1:c.1207A>G	XP_024303554.1:p.Thr403Ala
NM_001080114.2:c.1207A>G	NP_001073583.1:p.Thr403Ala
NM_001171610.2:c.1552A>G	NP_001165081.1:p.Thr518Ala
NM_001368064.1:c.1348A>G	NP_001354993.1:p.Thr450Ala
NM_001368065.1:c.1348A>G	NP_001354994.1:p.Thr450Ala
NM_001368066.1:c.1396A>G	NP_001354995.1:p.Thr466Ala
NM_007078.3:c.1537A>G MANE Select	NP_009009.1:p.Thr513Ala