Canonical Allele Identifier: CA3101939

Gene: LRBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.150490901T>C , CM000666.2:g.150490901T>C	GRCh38
NC_000004.11:g.151412053T>C , CM000666.1:g.151412053T>C	GRCh37
NC_000004.10:g.151631503T>C	NCBI36
NG_032855.1:g.529597A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651695.2:c.6448+17A>G	ENSP00000498254.2:n.6448+17A>G
ENST00000697127.1:c.121+17A>G	ENSP00000513124.1:n.121+17A>G
ENST00000697128.1:c.800+17A>G
ENST00000357115.9:c.6481+17A>G	ENSP00000349629.3:n.6481+17A>G
ENST00000648626.1:n.1492-75311A>G
ENST00000651035.1:c.*809+17A>G	ENSP00000498673.1:n.*809+17A>G
ENST00000651695.1:c.4162+17A>G	ENSP00000498254.1:n.4162+17A>G
ENST00000651943.2:c.6448+17A>G MANE Select	ENSP00000498582.2:n.6448+17A>G
ENST00000357115.7:c.6481+17A>G	ENSP00000349629.3:n.6481+17A>G
ENST00000503716.5:n.523+17A>G
ENST00000507224.5:c.6448+17A>G	ENSP00000422180.1:n.6448+17A>G
ENST00000509835.5:c.2406+17A>G
ENST00000510413.5:c.6448+17A>G	ENSP00000421552.1:n.6448+17A>G
NM_001199282.2:c.6448+17A>G	NP_001186211.2:n.6448+17A>G
NM_006726.4:c.6481+17A>G	NP_006717.2:n.6481+17A>G
XM_005263372.2:c.6481+17A>G	XP_005263429.1:n.6481+17A>G
XM_005263373.1:c.6481+17A>G	XP_005263430.1:n.6481+17A>G
XM_005263374.2:c.6448+17A>G	XP_005263431.1:n.6448+17A>G
XM_005263375.2:c.6448+17A>G	XP_005263432.1:n.6448+17A>G
XM_011532434.1:c.6481+17A>G	XP_011530736.1:n.6481+17A>G
NM_001364905.1:c.6448+17A>G MANE Select	NP_001351834.1:n.6448+17A>G
XM_005263372.3:c.6481+17A>G	XP_005263429.1:n.6481+17A>G
XM_005263373.3:c.6481+17A>G	XP_005263430.1:n.6481+17A>G
XM_005263374.3:c.6448+17A>G	XP_005263431.1:n.6448+17A>G
XM_011532434.2:c.6481+17A>G	XP_011530736.1:n.6481+17A>G
XM_017008872.2:c.6448+17A>G	XP_016864361.1:n.6448+17A>G
XM_017008873.2:c.151+17A>G	XP_016864362.1:n.151+17A>G
XM_017008874.1:c.145+17A>G	XP_016864363.1:n.145+17A>G
NM_001367550.1:c.6448+17A>G	NP_001354479.1:n.6448+17A>G