Canonical Allele Identifier: CA410424705
Gene: AIRE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290037T>A , CM000683.2:g.44290037T>A GRCh38
NC_000021.8:g.45709920T>A , CM000683.1:g.45709920T>A GRCh37
NC_000021.7:g.44534348T>A NCBI36
NG_009556.1:g.9158T>A , LRG_18:g.9158T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.848T>A MANE Select ENSP00000291582.5:p.Leu283Gln
ENST00000291582.5:c.848T>A ENSP00000291582.5:p.Leu283Gln
ENST00000527919.5:n.1581T>A
ENST00000530812.5:n.2598T>A
NM_000383.3:c.848T>A NP_000374.1:p.Leu283Gln
XM_011529551.1:c.848T>A XP_011527853.1:p.Leu283Gln
NM_000383.4:c.848T>A MANE Select NP_000374.1:p.Leu283Gln