Canonical Allele Identifier: CA2391565590
Gene: AIRE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287367T= , CM000683.2:g.44287367T= GRCh38
NC_000021.8:g.45707250T= , CM000683.1:g.45707250T= GRCh37
NC_000021.7:g.44531678T= NCBI36
NG_009556.1:g.6488T= , LRG_18:g.6488T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.464-150T= MANE Select ENSP00000291582.5:n.464-150T=
ENST00000291582.5:c.464-150T= ENSP00000291582.5:n.464-150T=
ENST00000527919.5:n.858T=
ENST00000530812.5:n.866T=
NM_000383.3:c.464-150T= NP_000374.1:n.464-150T=
XM_011529551.1:c.464-150T= XP_011527853.1:n.464-150T=
NM_000383.4:c.464-150T= MANE Select NP_000374.1:n.464-150T=
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