Canonical Allele Identifier: CA2391566833
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289752A= , CM000683.2:g.44289752A= GRCh38
NC_000021.8:g.45709635A= , CM000683.1:g.45709635A= GRCh37
NC_000021.7:g.44534063A= NCBI36
NG_009556.1:g.8873A= , LRG_18:g.8873A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.748A= MANE Select ENSP00000291582.5:p.Ser250=
ENST00000291582.5:c.748A= ENSP00000291582.5:p.Ser250=
ENST00000527919.5:n.1481A=
ENST00000530812.5:n.2498A=
NM_000383.3:c.748A= NP_000374.1:p.Ser250=
XM_011529551.1:c.748A= XP_011527853.1:p.Ser250=
NM_000383.4:c.748A= MANE Select NP_000374.1:p.Ser250=