Canonical Allele Identifier: CA377445326

Gene: LDB3

Linked Data

• ClinVar Variation Id: 2159077
• ClinVar RCV Id: RCV003085858
• gnomAD v4: 10-86699370-G-A
• MyVariant Identifiers: chr10:g.88459127G>A (hg19) ; chr10:g.86699370G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86699370G>A , CM000672.2:g.86699370G>A	GRCh38
NC_000010.10:g.88459127G>A , CM000672.1:g.88459127G>A	GRCh37
NC_000010.9:g.88449107G>A	NCBI36
NG_008876.1:g.35807G>A , LRG_385:g.35807G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000443292.2:c.2498G>A	ENSP00000393132.2:p.Ser833Asn
ENST00000685347.1:n.2460G>A
ENST00000687154.1:n.514+6799G>A
ENST00000687598.1:n.2949G>A
ENST00000688001.1:c.896+6799G>A	ENSP00000508987.1:n.896+6799G>A
ENST00000688678.1:c.897-68G>A	ENSP00000510048.1:n.897-68G>A
ENST00000688785.1:c.644G>A	ENSP00000509572.1:p.Ser215Asn
ENST00000689296.1:c.896+6799G>A	ENSP00000510609.1:n.896+6799G>A
ENST00000689740.1:c.755+6799G>A	ENSP00000510300.1:n.755+6799G>A
ENST00000691462.1:c.644G>A	ENSP00000509930.1:p.Ser215Asn
ENST00000692941.1:n.3081G>A
ENST00000693680.1:c.755+6799G>A	ENSP00000509539.1:n.755+6799G>A
ENST00000263066.11:c.848G>A MANE Plus Clinical	ENSP00000263066.7:p.Ser283Asn
ENST00000361373.9:c.896+6799G>A MANE Select	ENSP00000355296.3:n.896+6799G>A
ENST00000372066.8:c.848G>A	ENSP00000361136.3:p.Ser283Asn
ENST00000429277.7:c.755+6799G>A	ENSP00000401437.3:n.755+6799G>A
ENST00000542786.2:c.1216G>A	ENSP00000438866.1:n.1216G>A
ENST00000623056.4:c.1100+6799G>A	ENSP00000485500.1:n.1100+6799G>A
ENST00000263066.10:c.755+6799G>A	ENSP00000263066.6:n.755+6799G>A
ENST00000361373.8:c.896+6799G>A	ENSP00000355296.3:n.896+6799G>A
ENST00000372056.8:c.1193G>A	ENSP00000361126.4:p.Ser398Asn
ENST00000372066.7:c.848G>A	ENSP00000361136.3:p.Ser283Asn
ENST00000429277.6:c.1100+6799G>A	ENSP00000401437.2:n.1100+6799G>A
ENST00000542786.1:c.1216G>A	ENSP00000438866.1:n.1216G>A
ENST00000623007.3:c.989G>A	ENSP00000485389.1:p.Ser330Asn
ENST00000623056.3:c.1100+6799G>A	ENSP00000485500.1:n.1100+6799G>A
NM_001080114.1:c.755+6799G>A	NP_001073583.1:n.755+6799G>A
NM_001080115.1:c.989G>A	NP_001073584.1:p.Ser330Asn
NM_001080116.1:c.848G>A , LRG_385t2:c.848G>A	NP_001073585.1:p.Ser283Asn
NM_001171610.1:c.1100+6799G>A	NP_001165081.1:n.1100+6799G>A
NM_001171611.1:c.1193G>A	NP_001165082.1:p.Ser398Asn
NM_007078.2:c.896+6799G>A , LRG_385t1:c.896+6799G>A	NP_009009.1:n.896+6799G>A
XM_005269464.3:c.896+6799G>A	XP_005269521.1:n.896+6799G>A
XM_005269466.3:c.896+6799G>A	XP_005269523.1:n.896+6799G>A
XM_005269468.3:c.989G>A	XP_005269525.1:p.Ser330Asn
XM_011539184.1:c.1100+6799G>A	XP_011537486.1:n.1100+6799G>A
XM_011539185.1:c.1100+6799G>A	XP_011537487.1:n.1100+6799G>A
XM_011539186.1:c.1100+6799G>A	XP_011537488.1:n.1100+6799G>A
XM_011539187.1:c.1100+6799G>A	XP_011537489.1:n.1100+6799G>A
XM_011539188.1:c.896+6799G>A	XP_011537490.1:n.896+6799G>A
XM_011539189.1:c.755+6799G>A	XP_011537491.1:n.755+6799G>A
XM_011539190.1:c.755+6799G>A	XP_011537492.1:n.755+6799G>A
XM_011539191.1:c.566+6799G>A	XP_011537493.1:n.566+6799G>A
XM_011539192.1:c.551+6799G>A	XP_011537494.1:n.551+6799G>A
XM_011539193.1:c.56+6799G>A	XP_011537495.1:n.56+6799G>A
XM_011539194.1:c.56+6799G>A	XP_011537496.1:n.56+6799G>A
XM_011539195.1:c.1193G>A	XP_011537497.1:p.Ser398Asn
XM_005269464.4:c.896+6799G>A	XP_005269521.1:n.896+6799G>A
XM_005269466.4:c.896+6799G>A	XP_005269523.1:n.896+6799G>A
XM_005269468.4:c.989G>A	XP_005269525.1:p.Ser330Asn
XM_011539184.2:c.1100+6799G>A	XP_011537486.1:n.1100+6799G>A
XM_011539185.2:c.1100+6799G>A	XP_011537487.1:n.1100+6799G>A
XM_011539186.2:c.1100+6799G>A	XP_011537488.1:n.1100+6799G>A
XM_011539187.2:c.1100+6799G>A	XP_011537489.1:n.1100+6799G>A
XM_011539188.2:c.896+6799G>A	XP_011537490.1:n.896+6799G>A
XM_011539190.2:c.755+6799G>A	XP_011537492.1:n.755+6799G>A
XM_011539191.2:c.566+6799G>A	XP_011537493.1:n.566+6799G>A
XM_011539195.2:c.1193G>A	XP_011537497.1:p.Ser398Asn
XM_017015606.1:c.896+6799G>A	XP_016871095.1:n.896+6799G>A
XM_017015607.1:c.56+6799G>A	XP_016871096.1:n.56+6799G>A
XM_017015608.1:c.989G>A	XP_016871097.1:p.Ser330Asn
XM_017015609.1:c.848G>A	XP_016871098.1:p.Ser283Asn
XM_024447785.1:c.755+6799G>A	XP_024303553.1:n.755+6799G>A
XM_024447786.1:c.755+6799G>A	XP_024303554.1:n.755+6799G>A
XM_024447787.1:c.848G>A	XP_024303555.1:p.Ser283Asn
NM_001080114.2:c.755+6799G>A	NP_001073583.1:n.755+6799G>A
NM_001080115.2:c.989G>A	NP_001073584.1:p.Ser330Asn
NM_001171610.2:c.1100+6799G>A	NP_001165081.1:n.1100+6799G>A
NM_001171611.2:c.1193G>A	NP_001165082.1:p.Ser398Asn
NM_001368063.1:c.989G>A	NP_001354992.1:p.Ser330Asn
NM_001368064.1:c.896+6799G>A	NP_001354993.1:n.896+6799G>A
NM_001368065.1:c.896+6799G>A	NP_001354994.1:n.896+6799G>A
NM_001368066.1:c.755+6799G>A	NP_001354995.1:n.755+6799G>A
NM_001368067.1:c.848G>A MANE Plus Clinical	NP_001354996.1:p.Ser283Asn
NM_001368068.1:c.848G>A	NP_001354997.1:p.Ser283Asn
NM_007078.3:c.896+6799G>A MANE Select	NP_009009.1:n.896+6799G>A