Canonical Allele Identifier: CA2391569616
Gene: AIRE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44294569T= , CM000683.2:g.44294569T= GRCh38
NC_000021.8:g.45714452T= , CM000683.1:g.45714452T= GRCh37
NC_000021.7:g.44538880T= NCBI36
NG_009556.1:g.13690T= , LRG_18:g.13690T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.1503+66T= MANE Select ENSP00000291582.5:n.1503+66T=
ENST00000291582.5:c.1503+66T= ENSP00000291582.5:n.1503+66T=
ENST00000337909.5:n.964+66T=
ENST00000397994.8:n.882+66T=
ENST00000527919.5:n.2262+66T=
ENST00000530812.5:n.3250+66T=
NM_000383.3:c.1503+66T= NP_000374.1:n.1503+66T=
XM_011529551.1:c.1500+66T= XP_011527853.1:n.1500+66T=
NM_000383.4:c.1503+66T= MANE Select NP_000374.1:n.1503+66T=
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