Canonical Allele Identifier: CA5585169

Gene: LDB3

Linked Data

• ClinVar Variation Id: 1437998
• ClinVar RCV Id: RCV001934164
• dbSNP Id: rs141652573
• ExAC: 10:88476338 T / G
• gnomAD v2: 10-88476338-T-G
• gnomAD v3: 10-86716581-T-G
• gnomAD v4: 10-86716581-T-G
• MyVariant Identifiers: chr10:g.88476338T>G (hg19) ; chr10:g.86716581T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86716581T>G , CM000672.2:g.86716581T>G	GRCh38
NC_000010.10:g.88476338T>G , CM000672.1:g.88476338T>G	GRCh37
NC_000010.9:g.88466318T>G	NCBI36
NG_008876.1:g.53018T>G , LRG_385:g.53018T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687154.1:n.515-2146T>G
ENST00000688001.1:c.1297T>G	ENSP00000508987.1:p.Phe433Val
ENST00000689296.1:c.1297T>G	ENSP00000510609.1:p.Phe433Val
ENST00000689740.1:c.1345T>G	ENSP00000510300.1:p.Phe449Val
ENST00000693680.1:c.1345T>G	ENSP00000509539.1:p.Phe449Val
ENST00000361373.9:c.1486T>G MANE Select	ENSP00000355296.3:p.Phe496Val
ENST00000429277.7:c.1156T>G	ENSP00000401437.3:p.Phe386Val
ENST00000623056.4:c.1501T>G	ENSP00000485500.1:p.Phe501Val
ENST00000263066.10:c.1156T>G	ENSP00000263066.6:p.Phe386Val
ENST00000361373.8:c.1486T>G	ENSP00000355296.3:p.Phe496Val
ENST00000429277.6:c.1501T>G	ENSP00000401437.2:p.Phe501Val
ENST00000623056.3:c.1501T>G	ENSP00000485500.1:p.Phe501Val
NM_001080114.1:c.1156T>G	NP_001073583.1:p.Phe386Val
NM_001171610.1:c.1501T>G	NP_001165081.1:p.Phe501Val
NM_007078.2:c.1486T>G , LRG_385t1:c.1486T>G	NP_009009.1:p.Phe496Val
XM_005269464.3:c.1486T>G	XP_005269521.1:p.Phe496Val
XM_005269466.3:c.1297T>G	XP_005269523.1:p.Phe433Val
XM_011539184.1:c.1738T>G	XP_011537486.1:p.Phe580Val
XM_011539185.1:c.1738T>G	XP_011537487.1:p.Phe580Val
XM_011539186.1:c.1690T>G	XP_011537488.1:p.Phe564Val
XM_011539187.1:c.1549T>G	XP_011537489.1:p.Phe517Val
XM_011539188.1:c.1534T>G	XP_011537490.1:p.Phe512Val
XM_011539189.1:c.1393T>G	XP_011537491.1:p.Phe465Val
XM_011539190.1:c.1345T>G	XP_011537492.1:p.Phe449Val
XM_011539191.1:c.1204T>G	XP_011537493.1:p.Phe402Val
XM_011539192.1:c.1189T>G	XP_011537494.1:p.Phe397Val
XM_011539193.1:c.694T>G	XP_011537495.1:p.Phe232Val
XM_011539194.1:c.505T>G	XP_011537496.1:p.Phe169Val
XM_005269464.4:c.1486T>G	XP_005269521.1:p.Phe496Val
XM_005269466.4:c.1297T>G	XP_005269523.1:p.Phe433Val
XM_011539184.2:c.1738T>G	XP_011537486.1:p.Phe580Val
XM_011539185.2:c.1738T>G	XP_011537487.1:p.Phe580Val
XM_011539186.2:c.1690T>G	XP_011537488.1:p.Phe564Val
XM_011539187.2:c.1549T>G	XP_011537489.1:p.Phe517Val
XM_011539188.2:c.1534T>G	XP_011537490.1:p.Phe512Val
XM_011539190.2:c.1345T>G	XP_011537492.1:p.Phe449Val
XM_011539191.2:c.1204T>G	XP_011537493.1:p.Phe402Val
XM_017015606.1:c.1534T>G	XP_016871095.1:p.Phe512Val
XM_017015607.1:c.694T>G	XP_016871096.1:p.Phe232Val
XM_024447785.1:c.1393T>G	XP_024303553.1:p.Phe465Val
XM_024447786.1:c.1156T>G	XP_024303554.1:p.Phe386Val
NM_001080114.2:c.1156T>G	NP_001073583.1:p.Phe386Val
NM_001171610.2:c.1501T>G	NP_001165081.1:p.Phe501Val
NM_001368064.1:c.1297T>G	NP_001354993.1:p.Phe433Val
NM_001368065.1:c.1297T>G	NP_001354994.1:p.Phe433Val
NM_001368066.1:c.1345T>G	NP_001354995.1:p.Phe449Val
NM_007078.3:c.1486T>G MANE Select	NP_009009.1:p.Phe496Val