Canonical Allele Identifier: CA2391566907
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289879T= , CM000683.2:g.44289879T= GRCh38
NC_000021.8:g.45709762T= , CM000683.1:g.45709762T= GRCh37
NC_000021.7:g.44534190T= NCBI36
NG_009556.1:g.9000T= , LRG_18:g.9000T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.798+77T= MANE Select ENSP00000291582.5:n.798+77T=
ENST00000291582.5:c.798+77T= ENSP00000291582.5:n.798+77T=
ENST00000527919.5:n.1531+77T=
ENST00000530812.5:n.2548+77T=
NM_000383.3:c.798+77T= NP_000374.1:n.798+77T=
XM_011529551.1:c.798+77T= XP_011527853.1:n.798+77T=
NM_000383.4:c.798+77T= MANE Select NP_000374.1:n.798+77T=