Canonical Allele Identifier: CA2391566352
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288825T= , CM000683.2:g.44288825T= GRCh38
NC_000021.8:g.45708708T= , CM000683.1:g.45708708T= GRCh37
NC_000021.7:g.44533136T= NCBI36
NG_009556.1:g.7946T= , LRG_18:g.7946T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.652+367T= MANE Select ENSP00000291582.5:n.652+367T=
ENST00000291582.5:c.652+367T= ENSP00000291582.5:n.652+367T=
ENST00000527919.5:n.1196+367T=
ENST00000530812.5:n.1571T=
NM_000383.3:c.652+367T= NP_000374.1:n.652+367T=
XM_011529551.1:c.652+367T= XP_011527853.1:n.652+367T=
NM_000383.4:c.652+367T= MANE Select NP_000374.1:n.652+367T=