Canonical Allele Identifier: CA3101811

Gene: LRBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.150436867G>A , CM000666.2:g.150436867G>A	GRCh38
NC_000004.11:g.151358019G>A , CM000666.1:g.151358019G>A	GRCh37
NC_000004.10:g.151577469G>A	NCBI36
NG_032855.1:g.583631C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651695.2:c.6781-3C>T	ENSP00000498254.2:n.6781-3C>T
ENST00000697127.1:c.454-3C>T	ENSP00000513124.1:n.454-3C>T
ENST00000697128.1:c.1133-3C>T
ENST00000357115.9:c.6814-3C>T	ENSP00000349629.3:n.6814-3C>T
ENST00000648626.1:n.1492-21277C>T
ENST00000648823.1:c.302-3C>T
ENST00000648878.1:c.259-3C>T	ENSP00000497002.1:n.259-3C>T
ENST00000651035.1:c.*1142-3C>T	ENSP00000498673.1:n.*1142-3C>T
ENST00000651695.1:c.4495-3C>T	ENSP00000498254.1:n.4495-3C>T
ENST00000651943.2:c.6781-3C>T MANE Select	ENSP00000498582.2:n.6781-3C>T
ENST00000357115.7:c.6814-3C>T	ENSP00000349629.3:n.6814-3C>T
ENST00000503716.5:n.856-3C>T
ENST00000507224.5:c.6781-3C>T	ENSP00000422180.1:n.6781-3C>T
ENST00000509835.5:c.2739-3C>T
ENST00000510413.5:c.6781-3C>T	ENSP00000421552.1:n.6781-3C>T
NM_001199282.2:c.6781-3C>T	NP_001186211.2:n.6781-3C>T
NM_006726.4:c.6814-3C>T	NP_006717.2:n.6814-3C>T
XM_005263372.2:c.6814-3C>T	XP_005263429.1:n.6814-3C>T
XM_005263373.1:c.6814-3C>T	XP_005263430.1:n.6814-3C>T
XM_005263374.2:c.6781-3C>T	XP_005263431.1:n.6781-3C>T
XM_005263375.2:c.6781-3C>T	XP_005263432.1:n.6781-3C>T
XM_011532434.1:c.6814-3C>T	XP_011530736.1:n.6814-3C>T
NM_001364905.1:c.6781-3C>T MANE Select	NP_001351834.1:n.6781-3C>T
XM_005263372.3:c.6814-3C>T	XP_005263429.1:n.6814-3C>T
XM_005263373.3:c.6814-3C>T	XP_005263430.1:n.6814-3C>T
XM_005263374.3:c.6781-3C>T	XP_005263431.1:n.6781-3C>T
XM_011532434.2:c.6814-3C>T	XP_011530736.1:n.6814-3C>T
XM_017008872.2:c.6781-3C>T	XP_016864361.1:n.6781-3C>T
XM_017008873.2:c.484-3C>T	XP_016864362.1:n.484-3C>T
XM_017008874.1:c.478-3C>T	XP_016864363.1:n.478-3C>T
NM_001367550.1:c.6781-3C>T	NP_001354479.1:n.6781-3C>T