Canonical Allele Identifier: CA211205527

Gene: LDB3

Linked Data

• ClinVar Variation Id: 1024979
• ClinVar RCV Id: RCV001325230
• dbSNP Id: rs138951890
• gnomAD v4: 10-86716630-A-G
• MyVariant Identifiers: chr10:g.88476387A>G (hg19) ; chr10:g.86716630A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86716630A>G , CM000672.2:g.86716630A>G	GRCh38
NC_000010.10:g.88476387A>G , CM000672.1:g.88476387A>G	GRCh37
NC_000010.9:g.88466367A>G	NCBI36
NG_008876.1:g.53067A>G , LRG_385:g.53067A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687154.1:n.515-2097A>G
ENST00000688001.1:c.1346A>G	ENSP00000508987.1:p.Gln449Arg
ENST00000689296.1:c.1346A>G	ENSP00000510609.1:p.Gln449Arg
ENST00000689740.1:c.1394A>G	ENSP00000510300.1:p.Gln465Arg
ENST00000693680.1:c.1394A>G	ENSP00000509539.1:p.Gln465Arg
ENST00000361373.9:c.1535A>G MANE Select	ENSP00000355296.3:p.Gln512Arg
ENST00000429277.7:c.1205A>G	ENSP00000401437.3:p.Gln402Arg
ENST00000623056.4:c.1550A>G	ENSP00000485500.1:p.Gln517Arg
ENST00000263066.10:c.1205A>G	ENSP00000263066.6:p.Gln402Arg
ENST00000361373.8:c.1535A>G	ENSP00000355296.3:p.Gln512Arg
ENST00000429277.6:c.1550A>G	ENSP00000401437.2:p.Gln517Arg
ENST00000623056.3:c.1550A>G	ENSP00000485500.1:p.Gln517Arg
NM_001080114.1:c.1205A>G	NP_001073583.1:p.Gln402Arg
NM_001171610.1:c.1550A>G	NP_001165081.1:p.Gln517Arg
NM_007078.2:c.1535A>G , LRG_385t1:c.1535A>G	NP_009009.1:p.Gln512Arg
XM_005269464.3:c.1535A>G	XP_005269521.1:p.Gln512Arg
XM_005269466.3:c.1346A>G	XP_005269523.1:p.Gln449Arg
XM_011539184.1:c.1787A>G	XP_011537486.1:p.Gln596Arg
XM_011539185.1:c.1787A>G	XP_011537487.1:p.Gln596Arg
XM_011539186.1:c.1739A>G	XP_011537488.1:p.Gln580Arg
XM_011539187.1:c.1598A>G	XP_011537489.1:p.Gln533Arg
XM_011539188.1:c.1583A>G	XP_011537490.1:p.Gln528Arg
XM_011539189.1:c.1442A>G	XP_011537491.1:p.Gln481Arg
XM_011539190.1:c.1394A>G	XP_011537492.1:p.Gln465Arg
XM_011539191.1:c.1253A>G	XP_011537493.1:p.Gln418Arg
XM_011539192.1:c.1238A>G	XP_011537494.1:p.Gln413Arg
XM_011539193.1:c.743A>G	XP_011537495.1:p.Gln248Arg
XM_011539194.1:c.554A>G	XP_011537496.1:p.Gln185Arg
XM_005269464.4:c.1535A>G	XP_005269521.1:p.Gln512Arg
XM_005269466.4:c.1346A>G	XP_005269523.1:p.Gln449Arg
XM_011539184.2:c.1787A>G	XP_011537486.1:p.Gln596Arg
XM_011539185.2:c.1787A>G	XP_011537487.1:p.Gln596Arg
XM_011539186.2:c.1739A>G	XP_011537488.1:p.Gln580Arg
XM_011539187.2:c.1598A>G	XP_011537489.1:p.Gln533Arg
XM_011539188.2:c.1583A>G	XP_011537490.1:p.Gln528Arg
XM_011539190.2:c.1394A>G	XP_011537492.1:p.Gln465Arg
XM_011539191.2:c.1253A>G	XP_011537493.1:p.Gln418Arg
XM_017015606.1:c.1583A>G	XP_016871095.1:p.Gln528Arg
XM_017015607.1:c.743A>G	XP_016871096.1:p.Gln248Arg
XM_024447785.1:c.1442A>G	XP_024303553.1:p.Gln481Arg
XM_024447786.1:c.1205A>G	XP_024303554.1:p.Gln402Arg
NM_001080114.2:c.1205A>G	NP_001073583.1:p.Gln402Arg
NM_001171610.2:c.1550A>G	NP_001165081.1:p.Gln517Arg
NM_001368064.1:c.1346A>G	NP_001354993.1:p.Gln449Arg
NM_001368065.1:c.1346A>G	NP_001354994.1:p.Gln449Arg
NM_001368066.1:c.1394A>G	NP_001354995.1:p.Gln465Arg
NM_007078.3:c.1535A>G MANE Select	NP_009009.1:p.Gln512Arg