Canonical Allele Identifier: CA2391567546
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44291197C= , CM000683.2:g.44291197C= GRCh38
NC_000021.8:g.45711080C= , CM000683.1:g.45711080C= GRCh37
NC_000021.7:g.44535508C= NCBI36
NG_009556.1:g.10318C= , LRG_18:g.10318C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.982C= MANE Select ENSP00000291582.5:p.Arg328=
ENST00000291582.5:c.982C= ENSP00000291582.5:p.Arg328=
ENST00000337909.5:n.443C=
ENST00000397994.8:n.443C=
ENST00000527919.5:n.1712C=
ENST00000530812.5:n.2729C=
NM_000383.3:c.982C= NP_000374.1:p.Arg328=
XM_011529551.1:c.979C= XP_011527853.1:p.Arg327=
NM_000383.4:c.982C= MANE Select NP_000374.1:p.Arg328=