Canonical Allele Identifier: CA358450491
Gene: LRBA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.150844104T>G , CM000666.2:g.150844104T>G GRCh38
NC_000004.11:g.151765256T>G , CM000666.1:g.151765256T>G GRCh37
NC_000004.10:g.151984706T>G NCBI36
NG_032855.1:g.176394A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651695.2:c.4565A>C ENSP00000498254.2:p.Asp1522Ala
ENST00000697129.1:n.2892A>C
ENST00000357115.9:c.4565A>C ENSP00000349629.3:p.Asp1522Ala
ENST00000651035.1:c.4565A>C ENSP00000498673.1:p.Asp1522Ala
ENST00000651695.1:c.2279A>C ENSP00000498254.1:p.Asp760Ala
ENST00000651943.2:c.4565A>C MANE Select ENSP00000498582.2:p.Asp1522Ala
ENST00000357115.7:c.4565A>C ENSP00000349629.3:p.Asp1522Ala
ENST00000502839.1:c.296A>C ENSP00000424640.1:p.Asp99Ala
ENST00000507224.5:c.4565A>C ENSP00000422180.1:p.Asp1522Ala
ENST00000509835.5:c.523A>C
ENST00000510413.5:c.4565A>C ENSP00000421552.1:p.Asp1522Ala
NM_001199282.2:c.4565A>C NP_001186211.2:p.Asp1522Ala
NM_006726.4:c.4565A>C NP_006717.2:p.Asp1522Ala
XM_005263372.2:c.4565A>C XP_005263429.1:p.Asp1522Ala
XM_005263373.1:c.4565A>C XP_005263430.1:p.Asp1522Ala
XM_005263374.2:c.4565A>C XP_005263431.1:p.Asp1522Ala
XM_005263375.2:c.4565A>C XP_005263432.1:p.Asp1522Ala
XM_005263377.2:c.4565A>C XP_005263434.1:p.Asp1522Ala
XM_011532434.1:c.4565A>C XP_011530736.1:p.Asp1522Ala
NM_001364905.1:c.4565A>C MANE Select NP_001351834.1:p.Asp1522Ala
XM_005263372.3:c.4565A>C XP_005263429.1:p.Asp1522Ala
XM_005263373.3:c.4565A>C XP_005263430.1:p.Asp1522Ala
XM_005263374.3:c.4565A>C XP_005263431.1:p.Asp1522Ala
XM_011532434.2:c.4565A>C XP_011530736.1:p.Asp1522Ala
XM_017008872.2:c.4565A>C XP_016864361.1:p.Asp1522Ala
NM_001367550.1:c.4565A>C NP_001354479.1:p.Asp1522Ala