Canonical Allele Identifier: CA3101321
Gene: LRBA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.150265822G>A , CM000666.2:g.150265822G>A GRCh38
NC_000004.11:g.151186974G>A , CM000666.1:g.151186974G>A GRCh37
NC_000004.10:g.151406424G>A NCBI36
NG_032855.1:g.754676C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001364905.1:c.8469-10C>T MANE Select NP_001351834.1:n.8469-10C>T
ENST00000651943.2:c.8469-10C>T MANE Select ENSP00000498582.2:n.8469-10C>T
NM_001199282.2:c.8466-10C>T NP_001186211.2:n.8466-10C>T
NM_001367550.1:c.8484-10C>T NP_001354479.1:n.8484-10C>T
NM_006726.4:c.8502-10C>T NP_006717.2:n.8502-10C>T
ENST00000357115.7:c.8502-10C>T ENSP00000349629.3:n.8502-10C>T
ENST00000357115.9:c.8502-10C>T ENSP00000349629.3:n.8502-10C>T
ENST00000503716.5:n.2559-10C>T
ENST00000508606.1:c.387-10C>T
ENST00000509835.5:c.4427-10C>T
ENST00000510157.1:n.850-10C>T
ENST00000510157.2:n.1085-10C>T
ENST00000510413.5:c.8466-10C>T ENSP00000421552.1:n.8466-10C>T
ENST00000515096.5:n.1761-10C>T
ENST00000515096.6:n.5139-10C>T
ENST00000648626.1:n.2934-10C>T
ENST00000648823.1:c.2199-10C>T
ENST00000648878.1:c.2005-10C>T ENSP00000497002.1:n.2005-10C>T
ENST00000651035.1:c.*2830-10C>T ENSP00000498673.1:n.*2830-10C>T
ENST00000651695.1:c.6198-10C>T ENSP00000498254.1:n.6198-10C>T
ENST00000651695.2:c.8484-10C>T ENSP00000498254.2:n.8484-10C>T
ENST00000697127.1:c.2142-10C>T ENSP00000513124.1:n.2142-10C>T
ENST00000697128.1:c.2818-10C>T
XM_005263372.2:c.8517-10C>T XP_005263429.1:n.8517-10C>T
XM_005263372.3:c.8517-10C>T XP_005263429.1:n.8517-10C>T
XM_005263373.1:c.8517-10C>T XP_005263430.1:n.8517-10C>T
XM_005263373.3:c.8517-10C>T XP_005263430.1:n.8517-10C>T
XM_005263374.2:c.8484-10C>T XP_005263431.1:n.8484-10C>T
XM_005263374.3:c.8484-10C>T XP_005263431.1:n.8484-10C>T
XM_005263375.2:c.8469-10C>T XP_005263432.1:n.8469-10C>T
XM_011532434.1:c.8502-10C>T XP_011530736.1:n.8502-10C>T
XM_011532434.2:c.8502-10C>T XP_011530736.1:n.8502-10C>T
XM_017008872.2:c.8484-10C>T XP_016864361.1:n.8484-10C>T
XM_017008873.2:c.2187-10C>T XP_016864362.1:n.2187-10C>T
XM_017008874.1:c.2181-10C>T XP_016864363.1:n.2181-10C>T