Canonical Allele Identifier: CA3103310
Gene: LRBA HGNC NCBI

Linked Data

ClinVar Variation Id: 743723
ClinVar RCV Id: RCV000920097
dbSNP Id: rs191118242

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.150871437T>G , CM000666.2:g.150871437T>G GRCh38
NC_000004.11:g.151792589T>G , CM000666.1:g.151792589T>G GRCh37
NC_000004.10:g.152012039T>G NCBI36
NG_032855.1:g.149061A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000651695.2:c.2275A>C ENSP00000498254.2:p.Met759Leu
ENST00000697129.1:n.602A>C
ENST00000357115.9:c.2275A>C ENSP00000349629.3:p.Met759Leu
ENST00000651035.1:c.2275A>C ENSP00000498673.1:p.Met759Leu
ENST00000651943.2:c.2275A>C MANE Select ENSP00000498582.2:p.Met759Leu
ENST00000357115.7:c.2275A>C ENSP00000349629.3:p.Met759Leu
ENST00000507224.5:c.2275A>C ENSP00000422180.1:p.Met759Leu
ENST00000510413.5:c.2275A>C ENSP00000421552.1:p.Met759Leu
NM_001199282.2:c.2275A>C NP_001186211.2:p.Met759Leu
NM_006726.4:c.2275A>C NP_006717.2:p.Met759Leu
XM_005263372.2:c.2275A>C XP_005263429.1:p.Met759Leu
XM_005263373.1:c.2275A>C XP_005263430.1:p.Met759Leu
XM_005263374.2:c.2275A>C XP_005263431.1:p.Met759Leu
XM_005263375.2:c.2275A>C XP_005263432.1:p.Met759Leu
XM_005263377.2:c.2275A>C XP_005263434.1:p.Met759Leu
XM_011532434.1:c.2275A>C XP_011530736.1:p.Met759Leu
NM_001364905.1:c.2275A>C MANE Select NP_001351834.1:p.Met759Leu
XM_005263372.3:c.2275A>C XP_005263429.1:p.Met759Leu
XM_005263373.3:c.2275A>C XP_005263430.1:p.Met759Leu
XM_005263374.3:c.2275A>C XP_005263431.1:p.Met759Leu
XM_011532434.2:c.2275A>C XP_011530736.1:p.Met759Leu
XM_017008872.2:c.2275A>C XP_016864361.1:p.Met759Leu
NM_001367550.1:c.2275A>C NP_001354479.1:p.Met759Leu