Canonical Allele Identifier: CA3101437
Community Standard Title: NM_001364905.1(LRBA):c.8119+19C>T
Gene: LRBA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.150285914G>A , CM000666.2:g.150285914G>A GRCh38
NC_000004.11:g.151207066G>A , CM000666.1:g.151207066G>A GRCh37
NC_000004.10:g.151426516G>A NCBI36
NG_032855.1:g.734584C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001364905.1:c.8119+19C>T MANE Select NP_001351834.1:n.8119+19C>T
ENST00000651943.2:c.8119+19C>T MANE Select ENSP00000498582.2:n.8119+19C>T
NM_001199282.2:c.8116+19C>T NP_001186211.2:n.8116+19C>T
NM_001367550.1:c.8134+19C>T NP_001354479.1:n.8134+19C>T
NM_006726.4:c.8152+19C>T NP_006717.2:n.8152+19C>T
ENST00000357115.7:c.8152+19C>T ENSP00000349629.3:n.8152+19C>T
ENST00000357115.9:c.8152+19C>T ENSP00000349629.3:n.8152+19C>T
ENST00000503716.5:n.2209+19C>T
ENST00000508606.1:c.189+19C>T
ENST00000509835.5:c.4077+19C>T
ENST00000510157.1:n.500+19C>T
ENST00000510157.2:n.735+19C>T
ENST00000510413.5:c.8116+19C>T ENSP00000421552.1:n.8116+19C>T
ENST00000515096.5:n.1411+19C>T
ENST00000515096.6:n.4789+19C>T
ENST00000648626.1:n.2584+19C>T
ENST00000648823.1:c.1849+19C>T
ENST00000648878.1:c.1612+19C>T ENSP00000497002.1:n.1612+19C>T
ENST00000651035.1:c.*2480+19C>T ENSP00000498673.1:n.*2480+19C>T
ENST00000651695.1:c.5848+19C>T ENSP00000498254.1:n.5848+19C>T
ENST00000651695.2:c.8134+19C>T ENSP00000498254.2:n.8134+19C>T
ENST00000697127.1:c.1792+19C>T ENSP00000513124.1:n.1792+19C>T
ENST00000697128.1:c.2471+19C>T
ENST00000697130.1:n.519+19C>T
XM_005263372.2:c.8167+19C>T XP_005263429.1:n.8167+19C>T
XM_005263372.3:c.8167+19C>T XP_005263429.1:n.8167+19C>T
XM_005263373.1:c.8167+19C>T XP_005263430.1:n.8167+19C>T
XM_005263373.3:c.8167+19C>T XP_005263430.1:n.8167+19C>T
XM_005263374.2:c.8134+19C>T XP_005263431.1:n.8134+19C>T
XM_005263374.3:c.8134+19C>T XP_005263431.1:n.8134+19C>T
XM_005263375.2:c.8119+19C>T XP_005263432.1:n.8119+19C>T
XM_011532434.1:c.8152+19C>T XP_011530736.1:n.8152+19C>T
XM_011532434.2:c.8152+19C>T XP_011530736.1:n.8152+19C>T
XM_017008872.2:c.8134+19C>T XP_016864361.1:n.8134+19C>T
XM_017008873.2:c.1837+19C>T XP_016864362.1:n.1837+19C>T
XM_017008874.1:c.1831+19C>T XP_016864363.1:n.1831+19C>T