Canonical Allele Identifier: CA3102741

Gene: LRBA

Linked Data

• ClinVar Variation Id: 1063720
• ClinVar RCV Id: RCV001373585 ; RCV002550174
• dbSNP Id: rs765227496
• ExAC: 4:151765335 C / T
• gnomAD v2: 4-151765335-C-T
• gnomAD v3: 4-150844183-C-T
• gnomAD v4: 4-150844183-C-T
• MyVariant Identifiers: chr4:g.151765335C>T (hg19) ; chr4:g.150844183C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.150844183C>T , CM000666.2:g.150844183C>T	GRCh38
NC_000004.11:g.151765335C>T , CM000666.1:g.151765335C>T	GRCh37
NC_000004.10:g.151984785C>T	NCBI36
NG_032855.1:g.176315G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651695.2:c.4486G>A	ENSP00000498254.2:p.Gly1496Ser
ENST00000697129.1:n.2813G>A
ENST00000357115.9:c.4486G>A	ENSP00000349629.3:p.Gly1496Ser
ENST00000651035.1:c.4486G>A	ENSP00000498673.1:p.Gly1496Ser
ENST00000651695.1:c.2200G>A	ENSP00000498254.1:p.Gly734Ser
ENST00000651943.2:c.4486G>A MANE Select	ENSP00000498582.2:p.Gly1496Ser
ENST00000357115.7:c.4486G>A	ENSP00000349629.3:p.Gly1496Ser
ENST00000502839.1:c.217G>A	ENSP00000424640.1:p.Gly73Ser
ENST00000507224.5:c.4486G>A	ENSP00000422180.1:p.Gly1496Ser
ENST00000509835.5:c.444G>A
ENST00000510413.5:c.4486G>A	ENSP00000421552.1:p.Gly1496Ser
NM_001199282.2:c.4486G>A	NP_001186211.2:p.Gly1496Ser
NM_006726.4:c.4486G>A	NP_006717.2:p.Gly1496Ser
XM_005263372.2:c.4486G>A	XP_005263429.1:p.Gly1496Ser
XM_005263373.1:c.4486G>A	XP_005263430.1:p.Gly1496Ser
XM_005263374.2:c.4486G>A	XP_005263431.1:p.Gly1496Ser
XM_005263375.2:c.4486G>A	XP_005263432.1:p.Gly1496Ser
XM_005263377.2:c.4486G>A	XP_005263434.1:p.Gly1496Ser
XM_011532434.1:c.4486G>A	XP_011530736.1:p.Gly1496Ser
NM_001364905.1:c.4486G>A MANE Select	NP_001351834.1:p.Gly1496Ser
XM_005263372.3:c.4486G>A	XP_005263429.1:p.Gly1496Ser
XM_005263373.3:c.4486G>A	XP_005263430.1:p.Gly1496Ser
XM_005263374.3:c.4486G>A	XP_005263431.1:p.Gly1496Ser
XM_011532434.2:c.4486G>A	XP_011530736.1:p.Gly1496Ser
XM_017008872.2:c.4486G>A	XP_016864361.1:p.Gly1496Ser
NM_001367550.1:c.4486G>A	NP_001354479.1:p.Gly1496Ser