Canonical Allele Identifier: CA2391566826
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289740G= , CM000683.2:g.44289740G= GRCh38
NC_000021.8:g.45709623G= , CM000683.1:g.45709623G= GRCh37
NC_000021.7:g.44534051G= NCBI36
NG_009556.1:g.8861G= , LRG_18:g.8861G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.736G= MANE Select ENSP00000291582.5:p.Ala246=
ENST00000291582.5:c.736G= ENSP00000291582.5:p.Ala246=
ENST00000527919.5:n.1469G=
ENST00000530812.5:n.2486G=
NM_000383.3:c.736G= NP_000374.1:p.Ala246=
XM_011529551.1:c.736G= XP_011527853.1:p.Ala246=
NM_000383.4:c.736G= MANE Select NP_000374.1:p.Ala246=