Canonical Allele Identifier: CA2391566815
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289716G= , CM000683.2:g.44289716G= GRCh38
NC_000021.8:g.45709599G= , CM000683.1:g.45709599G= GRCh37
NC_000021.7:g.44534027G= NCBI36
NG_009556.1:g.8837G= , LRG_18:g.8837G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.712G= MANE Select ENSP00000291582.5:p.Asp238=
ENST00000291582.5:c.712G= ENSP00000291582.5:p.Asp238=
ENST00000527919.5:n.1445G=
ENST00000530812.5:n.2462G=
NM_000383.3:c.712G= NP_000374.1:p.Asp238=
XM_011529551.1:c.712G= XP_011527853.1:p.Asp238=
NM_000383.4:c.712G= MANE Select NP_000374.1:p.Asp238=