Canonical Allele Identifier: CA2391565545
Gene: AIRE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287280A= , CM000683.2:g.44287280A= GRCh38
NC_000021.8:g.45707163A= , CM000683.1:g.45707163A= GRCh37
NC_000021.7:g.44531591A= NCBI36
NG_009556.1:g.6401A= , LRG_18:g.6401A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.463+147A= MANE Select ENSP00000291582.5:n.463+147A=
ENST00000291582.5:c.463+147A= ENSP00000291582.5:n.463+147A=
ENST00000527919.5:n.771A=
ENST00000530812.5:n.779A=
NM_000383.3:c.463+147A= NP_000374.1:n.463+147A=
XM_011529551.1:c.463+147A= XP_011527853.1:n.463+147A=
NM_000383.4:c.463+147A= MANE Select NP_000374.1:n.463+147A=
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