Canonical Allele Identifier: CA10051682
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs778809453

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289699C>T , CM000683.2:g.44289699C>T GRCh38
NC_000021.8:g.45709582C>T , CM000683.1:g.45709582C>T GRCh37
NC_000021.7:g.44534010C>T NCBI36
NG_009556.1:g.8820C>T , LRG_18:g.8820C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.695C>T MANE Select ENSP00000291582.5:p.Thr232Ile
ENST00000291582.5:c.695C>T ENSP00000291582.5:p.Thr232Ile
ENST00000527919.5:n.1428C>T
ENST00000530812.5:n.2445C>T
NM_000383.3:c.695C>T NP_000374.1:p.Thr232Ile
XM_011529551.1:c.695C>T XP_011527853.1:p.Thr232Ile
NM_000383.4:c.695C>T MANE Select NP_000374.1:p.Thr232Ile