Canonical Allele Identifier: CA519286395
Gene: IKBKG HGNC NCBI

Linked Data

dbSNP Id: rs2071140880
MyVariant Identifiers: chrX:g.153791057C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154562842C>A , CM000685.2:g.154562842C>A GRCh38
NC_000023.10:g.153791057C>A , CM000685.1:g.153791057C>A GRCh37
NC_000023.9:g.153444251C>A NCBI36
NG_009896.1:g.25599C>A , LRG_70:g.25599C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000413620.6:c.765C>A ENSP00000398579.2:p.Leu255=
ENST00000422680.6:c.801C>A ENSP00000390368.3:p.Leu267=
ENST00000440286.6:c.801C>A ENSP00000394934.2:p.Leu267=
ENST00000445622.6:c.801C>A ENSP00000395205.2:p.Leu267=
ENST00000615186.5:c.399C>A ENSP00000479144.2:p.Leu133=
ENST00000686774.1:c.*182C>A ENSP00000510218.1:n.*182C>A
ENST00000687445.1:n.2198C>A
ENST00000689906.1:c.648C>A ENSP00000508630.1:p.Leu216=
ENST00000692948.1:c.858C>A ENSP00000508773.1:p.Leu286=
ENST00000693029.1:n.2201C>A
ENST00000594239.6:c.801C>A MANE Select ENSP00000471166.1:p.Leu267=
ENST00000594239.5:c.801C>A ENSP00000471166.1:p.Leu267=
ENST00000611071.4:c.801C>A ENSP00000479662.1:p.Leu267=
ENST00000611176.4:c.616-717C>A ENSP00000478616.1:n.616-717C>A
ENST00000612051.1:c.*793C>A ENSP00000480431.1:n.*793C>A
ENST00000615874.4:c.777C>A ENSP00000483381.1:p.Leu259=
ENST00000617207.4:c.798C>A ENSP00000484023.1:p.Leu266=
ENST00000617838.1:n.232C>A
ENST00000618670.4:c.1005C>A ENSP00000483825.1:p.Leu335=
ENST00000619941.4:c.780C>A ENSP00000478979.1:p.Leu260=
NM_001099856.3:c.1005C>A NP_001093326.2:p.Leu335=
NM_001099857.2:c.801C>A NP_001093327.1:p.Leu267=
NM_001145255.2:c.616-717C>A NP_001138727.1:n.616-717C>A
NM_003639.4:c.801C>A NP_003630.1:p.Leu267=
XM_005274760.3:c.1002C>A XP_005274817.1:p.Leu334=
XM_005274761.3:c.1005C>A XP_005274818.1:p.Leu335=
XM_005274764.3:c.798C>A XP_005274821.1:p.Leu266=
XM_011531203.1:c.852C>A XP_011529505.1:p.Leu284=
XM_011531204.1:c.801C>A XP_011529506.1:p.Leu267=
XM_011531205.1:c.801C>A XP_011529507.1:p.Leu267=
NM_001099856.4:c.1005C>A NP_001093326.2:p.Leu335=
NM_001321396.1:c.801C>A NP_001308325.1:p.Leu267=
NM_001321397.1:c.798C>A NP_001308326.1:p.Leu266=
NM_001099856.6:c.1005C>A NP_001093326.2:p.Leu335=
NM_001099857.4:c.801C>A NP_001093327.1:p.Leu267=
NM_001145255.4:c.616-717C>A NP_001138727.1:n.616-717C>A
NM_001321396.3:c.801C>A NP_001308325.1:p.Leu267=
NM_001321397.3:c.798C>A NP_001308326.1:p.Leu266=
NM_001377312.1:c.801C>A NP_001364241.1:p.Leu267=
NM_001377313.1:c.798C>A NP_001364242.1:p.Leu266=
NM_001377314.1:c.645C>A NP_001364243.1:p.Leu215=
NM_001377315.1:c.432C>A NP_001364244.1:p.Leu144=
NR_165197.1:n.670C>A
NM_001099857.5:c.801C>A MANE Select NP_001093327.1:p.Leu267=