Canonical Allele Identifier: CA3102748
Gene: LRBA HGNC NCBI

Linked Data

dbSNP Id: rs376769475

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.150844201C>T , CM000666.2:g.150844201C>T GRCh38
NC_000004.11:g.151765353C>T , CM000666.1:g.151765353C>T GRCh37
NC_000004.10:g.151984803C>T NCBI36
NG_032855.1:g.176297G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651695.2:c.4468G>A ENSP00000498254.2:p.Val1490Met
ENST00000697129.1:n.2795G>A
ENST00000357115.9:c.4468G>A ENSP00000349629.3:p.Val1490Met
ENST00000651035.1:c.4468G>A ENSP00000498673.1:p.Val1490Met
ENST00000651695.1:c.2182G>A ENSP00000498254.1:p.Val728Met
ENST00000651943.2:c.4468G>A MANE Select ENSP00000498582.2:p.Val1490Met
ENST00000357115.7:c.4468G>A ENSP00000349629.3:p.Val1490Met
ENST00000502839.1:c.199G>A ENSP00000424640.1:p.Val67Met
ENST00000507224.5:c.4468G>A ENSP00000422180.1:p.Val1490Met
ENST00000509835.5:c.426G>A
ENST00000510413.5:c.4468G>A ENSP00000421552.1:p.Val1490Met
NM_001199282.2:c.4468G>A NP_001186211.2:p.Val1490Met
NM_006726.4:c.4468G>A NP_006717.2:p.Val1490Met
XM_005263372.2:c.4468G>A XP_005263429.1:p.Val1490Met
XM_005263373.1:c.4468G>A XP_005263430.1:p.Val1490Met
XM_005263374.2:c.4468G>A XP_005263431.1:p.Val1490Met
XM_005263375.2:c.4468G>A XP_005263432.1:p.Val1490Met
XM_005263377.2:c.4468G>A XP_005263434.1:p.Val1490Met
XM_011532434.1:c.4468G>A XP_011530736.1:p.Val1490Met
NM_001364905.1:c.4468G>A MANE Select NP_001351834.1:p.Val1490Met
XM_005263372.3:c.4468G>A XP_005263429.1:p.Val1490Met
XM_005263373.3:c.4468G>A XP_005263430.1:p.Val1490Met
XM_005263374.3:c.4468G>A XP_005263431.1:p.Val1490Met
XM_011532434.2:c.4468G>A XP_011530736.1:p.Val1490Met
XM_017008872.2:c.4468G>A XP_016864361.1:p.Val1490Met
NM_001367550.1:c.4468G>A NP_001354479.1:p.Val1490Met