Canonical Allele Identifier: CA2391567062
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290168C= , CM000683.2:g.44290168C= GRCh38
NC_000021.8:g.45710051C= , CM000683.1:g.45710051C= GRCh37
NC_000021.7:g.44534479C= NCBI36
NG_009556.1:g.9289C= , LRG_18:g.9289C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.879+100C= MANE Select ENSP00000291582.5:n.879+100C=
ENST00000291582.5:c.879+100C= ENSP00000291582.5:n.879+100C=
ENST00000527919.5:n.1612+100C=
ENST00000530812.5:n.2629+100C=
NM_000383.3:c.879+100C= NP_000374.1:n.879+100C=
XM_011529551.1:c.879+100C= XP_011527853.1:n.879+100C=
NM_000383.4:c.879+100C= MANE Select NP_000374.1:n.879+100C=