Canonical Allele Identifier: CA358450508
Gene: LRBA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.150844111A>T , CM000666.2:g.150844111A>T GRCh38
NC_000004.11:g.151765263A>T , CM000666.1:g.151765263A>T GRCh37
NC_000004.10:g.151984713A>T NCBI36
NG_032855.1:g.176387T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651695.2:c.4558T>A ENSP00000498254.2:p.Phe1520Ile
ENST00000697129.1:n.2885T>A
ENST00000357115.9:c.4558T>A ENSP00000349629.3:p.Phe1520Ile
ENST00000651035.1:c.4558T>A ENSP00000498673.1:p.Phe1520Ile
ENST00000651695.1:c.2272T>A ENSP00000498254.1:p.Phe758Ile
ENST00000651943.2:c.4558T>A MANE Select ENSP00000498582.2:p.Phe1520Ile
ENST00000357115.7:c.4558T>A ENSP00000349629.3:p.Phe1520Ile
ENST00000502839.1:c.289T>A ENSP00000424640.1:p.Phe97Ile
ENST00000507224.5:c.4558T>A ENSP00000422180.1:p.Phe1520Ile
ENST00000509835.5:c.516T>A
ENST00000510413.5:c.4558T>A ENSP00000421552.1:p.Phe1520Ile
NM_001199282.2:c.4558T>A NP_001186211.2:p.Phe1520Ile
NM_006726.4:c.4558T>A NP_006717.2:p.Phe1520Ile
XM_005263372.2:c.4558T>A XP_005263429.1:p.Phe1520Ile
XM_005263373.1:c.4558T>A XP_005263430.1:p.Phe1520Ile
XM_005263374.2:c.4558T>A XP_005263431.1:p.Phe1520Ile
XM_005263375.2:c.4558T>A XP_005263432.1:p.Phe1520Ile
XM_005263377.2:c.4558T>A XP_005263434.1:p.Phe1520Ile
XM_011532434.1:c.4558T>A XP_011530736.1:p.Phe1520Ile
NM_001364905.1:c.4558T>A MANE Select NP_001351834.1:p.Phe1520Ile
XM_005263372.3:c.4558T>A XP_005263429.1:p.Phe1520Ile
XM_005263373.3:c.4558T>A XP_005263430.1:p.Phe1520Ile
XM_005263374.3:c.4558T>A XP_005263431.1:p.Phe1520Ile
XM_011532434.2:c.4558T>A XP_011530736.1:p.Phe1520Ile
XM_017008872.2:c.4558T>A XP_016864361.1:p.Phe1520Ile
NM_001367550.1:c.4558T>A NP_001354479.1:p.Phe1520Ile