Canonical Allele Identifier: CA2391566809
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289704A= , CM000683.2:g.44289704A= GRCh38
NC_000021.8:g.45709587A= , CM000683.1:g.45709587A= GRCh37
NC_000021.7:g.44534015A= NCBI36
NG_009556.1:g.8825A= , LRG_18:g.8825A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.700A= MANE Select ENSP00000291582.5:p.Ser234=
ENST00000291582.5:c.700A= ENSP00000291582.5:p.Ser234=
ENST00000527919.5:n.1433A=
ENST00000530812.5:n.2450A=
NM_000383.3:c.700A= NP_000374.1:p.Ser234=
XM_011529551.1:c.700A= XP_011527853.1:p.Ser234=
NM_000383.4:c.700A= MANE Select NP_000374.1:p.Ser234=