Canonical Allele Identifier: CA2391566148
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288399A= , CM000683.2:g.44288399A= GRCh38
NC_000021.8:g.45708282A= , CM000683.1:g.45708282A= GRCh37
NC_000021.7:g.44532710A= NCBI36
NG_009556.1:g.7520A= , LRG_18:g.7520A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.593A= MANE Select ENSP00000291582.5:p.Asp198=
ENST00000291582.5:c.593A= ENSP00000291582.5:p.Asp198=
ENST00000527919.5:n.1137A=
ENST00000530812.5:n.1145A=
NM_000383.3:c.593A= NP_000374.1:p.Asp198=
XM_011529551.1:c.593A= XP_011527853.1:p.Asp198=
NM_000383.4:c.593A= MANE Select NP_000374.1:p.Asp198=