Canonical Allele Identifier: CA2391566846
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289781G= , CM000683.2:g.44289781G= GRCh38
NC_000021.8:g.45709664G= , CM000683.1:g.45709664G= GRCh37
NC_000021.7:g.44534092G= NCBI36
NG_009556.1:g.8902G= , LRG_18:g.8902G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.777G= MANE Select ENSP00000291582.5:p.Lys259=
ENST00000291582.5:c.777G= ENSP00000291582.5:p.Lys259=
ENST00000527919.5:n.1510G=
ENST00000530812.5:n.2527G=
NM_000383.3:c.777G= NP_000374.1:p.Lys259=
XM_011529551.1:c.777G= XP_011527853.1:p.Lys259=
NM_000383.4:c.777G= MANE Select NP_000374.1:p.Lys259=