Canonical Allele Identifier: CA2391566858
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289799C= , CM000683.2:g.44289799C= GRCh38
NC_000021.8:g.45709682C= , CM000683.1:g.45709682C= GRCh37
NC_000021.7:g.44534110C= NCBI36
NG_009556.1:g.8920C= , LRG_18:g.8920C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.795C= MANE Select ENSP00000291582.5:p.Ala265=
ENST00000291582.5:c.795C= ENSP00000291582.5:p.Ala265=
ENST00000527919.5:n.1528C=
ENST00000530812.5:n.2545C=
NM_000383.3:c.795C= NP_000374.1:p.Ala265=
XM_011529551.1:c.795C= XP_011527853.1:p.Ala265=
NM_000383.4:c.795C= MANE Select NP_000374.1:p.Ala265=