Canonical Allele Identifier: CA136561
Gene: LDB3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 45533
dbSNP Id: rs145983824

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86718110C>T , CM000672.2:g.86718110C>T GRCh38
NC_000010.10:g.88477867C>T , CM000672.1:g.88477867C>T GRCh37
NC_000010.9:g.88467847C>T NCBI36
NG_008876.1:g.54547C>T , LRG_385:g.54547C>T

Transcript Alleles

HGVS Amino-acid change
NM_001080114.1:c.1493C>T VV NP_001073583.1:p.Pro498Leu
NM_001171610.1:c.1838C>T VV NP_001165081.1:p.Pro613Leu
NM_007078.2:c.1823C>T , LRG_385t1:c.1823C>T NP_009009.1:p.Pro608Leu
XM_005269464.3:c.1823C>T XP_005269521.1:p.Pro608Leu
XM_005269466.3:c.1634C>T XP_005269523.1:p.Pro545Leu
XM_011539184.1:c.2075C>T XP_011537486.1:p.Pro692Leu
XM_011539185.1:c.2075C>T XP_011537487.1:p.Pro692Leu
XM_011539186.1:c.2027C>T XP_011537488.1:p.Pro676Leu
XM_011539187.1:c.1886C>T XP_011537489.1:p.Pro629Leu
XM_011539188.1:c.1871C>T XP_011537490.1:p.Pro624Leu
XM_011539189.1:c.1730C>T XP_011537491.1:p.Pro577Leu
XM_011539190.1:c.1682C>T XP_011537492.1:p.Pro561Leu
XM_011539191.1:c.1541C>T XP_011537493.1:p.Pro514Leu
XM_011539192.1:c.1526C>T XP_011537494.1:p.Pro509Leu
XM_011539193.1:c.1031C>T XP_011537495.1:p.Pro344Leu
XM_011539194.1:c.842C>T XP_011537496.1:p.Pro281Leu
XM_005269464.4:c.1823C>T XP_005269521.1:p.Pro608Leu
XM_005269466.4:c.1634C>T XP_005269523.1:p.Pro545Leu
XM_011539184.2:c.2075C>T XP_011537486.1:p.Pro692Leu
XM_011539185.2:c.2075C>T XP_011537487.1:p.Pro692Leu
XM_011539186.2:c.2027C>T XP_011537488.1:p.Pro676Leu
XM_011539187.2:c.1886C>T XP_011537489.1:p.Pro629Leu
XM_011539188.2:c.1871C>T XP_011537490.1:p.Pro624Leu
XM_011539190.2:c.1682C>T XP_011537492.1:p.Pro561Leu
XM_011539191.2:c.1541C>T XP_011537493.1:p.Pro514Leu
XM_017015606.1:c.1871C>T XP_016871095.1:p.Pro624Leu
XM_017015607.1:c.1031C>T XP_016871096.1:p.Pro344Leu
XM_024447785.1:c.1730C>T XP_024303553.1:p.Pro577Leu
XM_024447786.1:c.1493C>T XP_024303554.1:p.Pro498Leu
ENST00000263066.10:n.1493C>T ENSP00000263066.6:p.Pro498Leu
ENST00000361373.8:c.1823C>T ENSP00000355296.3:p.Pro608Leu
ENST00000429277.6:c.1838C>T ENSP00000401437.2:p.Pro613Leu
ENST00000623056.3:c.1838C>T ENSP00000485500.1:p.Pro613Leu