Canonical Allele Identifier: CA2391567522
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44291134G= , CM000683.2:g.44291134G= GRCh38
NC_000021.8:g.45711017G= , CM000683.1:g.45711017G= GRCh37
NC_000021.7:g.44535445G= NCBI36
NG_009556.1:g.10255G= , LRG_18:g.10255G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.919G= MANE Select ENSP00000291582.5:p.Glu307=
ENST00000291582.5:c.919G= ENSP00000291582.5:p.Glu307=
ENST00000337909.5:n.380G=
ENST00000397994.8:n.380G=
ENST00000527919.5:n.1649G=
ENST00000530812.5:n.2666G=
NM_000383.3:c.919G= NP_000374.1:p.Glu307=
XM_011529551.1:c.916G= XP_011527853.1:p.Glu306=
NM_000383.4:c.919G= MANE Select NP_000374.1:p.Glu307=