Canonical Allele Identifier: CA3101348
Gene: LRBA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.150277891G>C , CM000666.2:g.150277891G>C GRCh38
NC_000004.11:g.151199043G>C , CM000666.1:g.151199043G>C GRCh37
NC_000004.10:g.151418493G>C NCBI36
NG_032855.1:g.742607C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000510157.2:n.1046C>G
ENST00000515096.6:n.5100C>G
ENST00000651695.2:c.8445C>G ENSP00000498254.2:p.Asp2815Glu
ENST00000697127.1:c.2103C>G ENSP00000513124.1:p.Asp701Glu
ENST00000697128.1:c.2779C>G
ENST00000357115.9:c.8463C>G ENSP00000349629.3:p.Asp2821Glu
ENST00000648626.1:n.2895C>G
ENST00000648823.1:c.2160C>G
ENST00000648878.1:c.1923C>G ENSP00000497002.1:p.Asp641Glu
ENST00000651035.1:c.*2791C>G ENSP00000498673.1:n.*2791C>G
ENST00000651695.1:c.6159C>G ENSP00000498254.1:p.Asp2053Glu
ENST00000651943.2:c.8430C>G MANE Select ENSP00000498582.2:p.Asp2810Glu
ENST00000357115.7:c.8463C>G ENSP00000349629.3:p.Asp2821Glu
ENST00000503716.5:n.2520C>G
ENST00000508606.1:c.386+4559C>G
ENST00000509835.5:c.4388C>G
ENST00000510157.1:n.811C>G
ENST00000510413.5:c.8427C>G ENSP00000421552.1:p.Asp2809Glu
ENST00000515096.5:n.1722C>G
NM_001199282.2:c.8427C>G NP_001186211.2:p.Asp2809Glu
NM_006726.4:c.8463C>G NP_006717.2:p.Asp2821Glu
XM_005263372.2:c.8478C>G XP_005263429.1:p.Asp2826Glu
XM_005263373.1:c.8478C>G XP_005263430.1:p.Asp2826Glu
XM_005263374.2:c.8445C>G XP_005263431.1:p.Asp2815Glu
XM_005263375.2:c.8430C>G XP_005263432.1:p.Asp2810Glu
XM_011532434.1:c.8463C>G XP_011530736.1:p.Asp2821Glu
NM_001364905.1:c.8430C>G MANE Select NP_001351834.1:p.Asp2810Glu
XM_005263372.3:c.8478C>G XP_005263429.1:p.Asp2826Glu
XM_005263373.3:c.8478C>G XP_005263430.1:p.Asp2826Glu
XM_005263374.3:c.8445C>G XP_005263431.1:p.Asp2815Glu
XM_011532434.2:c.8463C>G XP_011530736.1:p.Asp2821Glu
XM_017008872.2:c.8445C>G XP_016864361.1:p.Asp2815Glu
XM_017008873.2:c.2148C>G XP_016864362.1:p.Asp716Glu
XM_017008874.1:c.2142C>G XP_016864363.1:p.Asp714Glu
NM_001367550.1:c.8445C>G NP_001354479.1:p.Asp2815Glu