Canonical Allele Identifier: CA5585272

Gene: LDB3

Linked Data

• ClinVar Variation Id: 406803
• ClinVar RCV Id: RCV001810949 ; RCV002418366 ; RCV002489025
• dbSNP Id: rs201063130
• ExAC: 10:88478588 G / A
• gnomAD v2: 10-88478588-G-A
• gnomAD v3: 10-86718831-G-A
• gnomAD v4: 10-86718831-G-A
• MyVariant Identifiers: chr10:g.88478588G>A (hg19) ; chr10:g.86718831G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86718831G>A , CM000672.2:g.86718831G>A	GRCh38
NC_000010.10:g.88478588G>A , CM000672.1:g.88478588G>A	GRCh37
NC_000010.9:g.88468568G>A	NCBI36
NG_008876.1:g.55268G>A , LRG_385:g.55268G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000688001.1:c.1773G>A	ENSP00000508987.1:p.Glu591=
ENST00000689296.1:c.1773G>A	ENSP00000510609.1:p.Glu591=
ENST00000689740.1:c.1821G>A	ENSP00000510300.1:p.Glu607=
ENST00000693680.1:c.1821G>A	ENSP00000509539.1:p.Glu607=
ENST00000361373.9:c.1962G>A MANE Select	ENSP00000355296.3:p.Glu654=
ENST00000429277.7:c.1632G>A	ENSP00000401437.3:p.Glu544=
ENST00000623056.4:c.1977G>A	ENSP00000485500.1:p.Glu659=
ENST00000263066.10:c.1632G>A	ENSP00000263066.6:p.Glu544=
ENST00000361373.8:c.1962G>A	ENSP00000355296.3:p.Glu654=
ENST00000429277.6:c.1977G>A	ENSP00000401437.2:p.Glu659=
ENST00000477489.1:c.102G>A	ENSP00000485538.1:p.Glu34=
ENST00000623056.3:c.1977G>A	ENSP00000485500.1:p.Glu659=
NM_001080114.1:c.1632G>A	NP_001073583.1:p.Glu544=
NM_001171610.1:c.1977G>A	NP_001165081.1:p.Glu659=
NM_007078.2:c.1962G>A , LRG_385t1:c.1962G>A	NP_009009.1:p.Glu654=
XM_005269464.3:c.1962G>A	XP_005269521.1:p.Glu654=
XM_005269466.3:c.1773G>A	XP_005269523.1:p.Glu591=
XM_011539184.1:c.2214G>A	XP_011537486.1:p.Glu738=
XM_011539185.1:c.2214G>A	XP_011537487.1:p.Glu738=
XM_011539186.1:c.2166G>A	XP_011537488.1:p.Glu722=
XM_011539187.1:c.2025G>A	XP_011537489.1:p.Glu675=
XM_011539188.1:c.2010G>A	XP_011537490.1:p.Glu670=
XM_011539189.1:c.1869G>A	XP_011537491.1:p.Glu623=
XM_011539190.1:c.1821G>A	XP_011537492.1:p.Glu607=
XM_011539191.1:c.1680G>A	XP_011537493.1:p.Glu560=
XM_011539192.1:c.1665G>A	XP_011537494.1:p.Glu555=
XM_011539193.1:c.1170G>A	XP_011537495.1:p.Glu390=
XM_011539194.1:c.981G>A	XP_011537496.1:p.Glu327=
XM_005269464.4:c.1962G>A	XP_005269521.1:p.Glu654=
XM_005269466.4:c.1773G>A	XP_005269523.1:p.Glu591=
XM_011539184.2:c.2214G>A	XP_011537486.1:p.Glu738=
XM_011539185.2:c.2214G>A	XP_011537487.1:p.Glu738=
XM_011539186.2:c.2166G>A	XP_011537488.1:p.Glu722=
XM_011539187.2:c.2025G>A	XP_011537489.1:p.Glu675=
XM_011539188.2:c.2010G>A	XP_011537490.1:p.Glu670=
XM_011539190.2:c.1821G>A	XP_011537492.1:p.Glu607=
XM_011539191.2:c.1680G>A	XP_011537493.1:p.Glu560=
XM_017015606.1:c.2010G>A	XP_016871095.1:p.Glu670=
XM_017015607.1:c.1170G>A	XP_016871096.1:p.Glu390=
XM_024447785.1:c.1869G>A	XP_024303553.1:p.Glu623=
XM_024447786.1:c.1632G>A	XP_024303554.1:p.Glu544=
NM_001080114.2:c.1632G>A	NP_001073583.1:p.Glu544=
NM_001171610.2:c.1977G>A	NP_001165081.1:p.Glu659=
NM_001368064.1:c.1773G>A	NP_001354993.1:p.Glu591=
NM_001368065.1:c.1773G>A	NP_001354994.1:p.Glu591=
NM_001368066.1:c.1821G>A	NP_001354995.1:p.Glu607=
NM_007078.3:c.1962G>A MANE Select	NP_009009.1:p.Glu654=