Canonical Allele Identifier: CA7155453
Community Standard Title: NM_020529.3(NFKBIA):c.506C>T (p.Thr169Ile)
Gene: NFKBIA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.35403191G>A , CM000676.2:g.35403191G>A GRCh38
NC_000014.8:g.35872397G>A , CM000676.1:g.35872397G>A GRCh37
NC_000014.7:g.34942148G>A NCBI36
NG_007571.1:g.6548C>T , LRG_89:g.6548C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020529.3:c.506C>T MANE Select NP_065390.1:p.Thr169Ile
ENST00000216797.10:c.506C>T MANE Select ENSP00000216797.6:p.Thr169Ile
NM_020529.2:c.506C>T , LRG_89t1:c.506C>T NP_065390.1:p.Thr169Ile
ENST00000216797.9:c.506C>T ENSP00000216797.5:p.Thr169Ile
ENST00000553342.2:c.434C>T ENSP00000451281.2:p.Thr145Ile
ENST00000554001.5:c.*148C>T ENSP00000450537.1:n.*148C>T
ENST00000555371.1:n.48C>T
ENST00000556664.1:n.240C>T
ENST00000557100.5:n.562C>T
ENST00000557140.5:c.506C>T ENSP00000451257.1:p.Thr169Ile
ENST00000557389.1:c.236C>T ENSP00000450514.1:p.Thr79Ile
ENST00000557459.1:n.604C>T
ENST00000557459.2:n.604C>T
ENST00000697954.1:n.318C>T
ENST00000697955.1:n.464C>T
ENST00000697956.1:n.385C>T
ENST00000697957.1:n.611C>T
ENST00000697958.1:n.933C>T
ENST00000697959.1:n.611C>T
ENST00000697960.1:n.920C>T
ENST00000697961.1:c.506C>T ENSP00000513487.1:p.Thr169Ile
ENST00000697962.1:c.236C>T ENSP00000513488.1:p.Thr79Ile
ENST00000697966.1:n.524C>T