Canonical Allele Identifier: CA2391566816
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289717A= , CM000683.2:g.44289717A= GRCh38
NC_000021.8:g.45709600A= , CM000683.1:g.45709600A= GRCh37
NC_000021.7:g.44534028A= NCBI36
NG_009556.1:g.8838A= , LRG_18:g.8838A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.713A= MANE Select ENSP00000291582.5:p.Asp238=
ENST00000291582.5:c.713A= ENSP00000291582.5:p.Asp238=
ENST00000527919.5:n.1446A=
ENST00000530812.5:n.2463A=
NM_000383.3:c.713A= NP_000374.1:p.Asp238=
XM_011529551.1:c.713A= XP_011527853.1:p.Asp238=
NM_000383.4:c.713A= MANE Select NP_000374.1:p.Asp238=