Canonical Allele Identifier: CA3101922

Gene: LRBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.150487840A>G , CM000666.2:g.150487840A>G	GRCh38
NC_000004.11:g.151408992A>G , CM000666.1:g.151408992A>G	GRCh37
NC_000004.10:g.151628442A>G	NCBI36
NG_032855.1:g.532658T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001364905.1:c.6449-6T>C MANE Select	NP_001351834.1:n.6449-6T>C
ENST00000651943.2:c.6449-6T>C MANE Select	ENSP00000498582.2:n.6449-6T>C
NM_001199282.2:c.6449-6T>C	NP_001186211.2:n.6449-6T>C
NM_001367550.1:c.6449-6T>C	NP_001354479.1:n.6449-6T>C
NM_006726.4:c.6482-6T>C	NP_006717.2:n.6482-6T>C
ENST00000357115.7:c.6482-6T>C	ENSP00000349629.3:n.6482-6T>C
ENST00000357115.9:c.6482-6T>C	ENSP00000349629.3:n.6482-6T>C
ENST00000503716.5:n.524-6T>C
ENST00000507224.5:c.6449-6T>C	ENSP00000422180.1:n.6449-6T>C
ENST00000509835.5:c.2407-6T>C
ENST00000510413.5:c.6449-6T>C	ENSP00000421552.1:n.6449-6T>C
ENST00000648626.1:n.1492-72250T>C
ENST00000651035.1:c.*810-6T>C	ENSP00000498673.1:n.*810-6T>C
ENST00000651695.1:c.4163-6T>C	ENSP00000498254.1:n.4163-6T>C
ENST00000651695.2:c.6449-6T>C	ENSP00000498254.2:n.6449-6T>C
ENST00000697127.1:c.122-6T>C	ENSP00000513124.1:n.122-6T>C
ENST00000697128.1:c.801-6T>C
XM_005263372.2:c.6482-6T>C	XP_005263429.1:n.6482-6T>C
XM_005263372.3:c.6482-6T>C	XP_005263429.1:n.6482-6T>C
XM_005263373.1:c.6482-6T>C	XP_005263430.1:n.6482-6T>C
XM_005263373.3:c.6482-6T>C	XP_005263430.1:n.6482-6T>C
XM_005263374.2:c.6449-6T>C	XP_005263431.1:n.6449-6T>C
XM_005263374.3:c.6449-6T>C	XP_005263431.1:n.6449-6T>C
XM_005263375.2:c.6449-6T>C	XP_005263432.1:n.6449-6T>C
XM_011532434.1:c.6482-6T>C	XP_011530736.1:n.6482-6T>C
XM_011532434.2:c.6482-6T>C	XP_011530736.1:n.6482-6T>C
XM_017008872.2:c.6449-6T>C	XP_016864361.1:n.6449-6T>C
XM_017008873.2:c.152-6T>C	XP_016864362.1:n.152-6T>C
XM_017008874.1:c.146-6T>C	XP_016864363.1:n.146-6T>C