Canonical Allele Identifier: CA410424506
Gene: AIRE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289753G>T , CM000683.2:g.44289753G>T GRCh38
NC_000021.8:g.45709636G>T , CM000683.1:g.45709636G>T GRCh37
NC_000021.7:g.44534064G>T NCBI36
NG_009556.1:g.8874G>T , LRG_18:g.8874G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.749G>T MANE Select ENSP00000291582.5:p.Ser250Ile
ENST00000291582.5:c.749G>T ENSP00000291582.5:p.Ser250Ile
ENST00000527919.5:n.1482G>T
ENST00000530812.5:n.2499G>T
NM_000383.3:c.749G>T NP_000374.1:p.Ser250Ile
XM_011529551.1:c.749G>T XP_011527853.1:p.Ser250Ile
NM_000383.4:c.749G>T MANE Select NP_000374.1:p.Ser250Ile