Canonical Allele Identifier: CA2391567049
Gene: AIRE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290126C= , CM000683.2:g.44290126C= GRCh38
NC_000021.8:g.45710009C= , CM000683.1:g.45710009C= GRCh37
NC_000021.7:g.44534437C= NCBI36
NG_009556.1:g.9247C= , LRG_18:g.9247C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.879+58C= MANE Select ENSP00000291582.5:n.879+58C=
ENST00000291582.5:c.879+58C= ENSP00000291582.5:n.879+58C=
ENST00000527919.5:n.1612+58C=
ENST00000530812.5:n.2629+58C=
NM_000383.3:c.879+58C= NP_000374.1:n.879+58C=
XM_011529551.1:c.879+58C= XP_011527853.1:n.879+58C=
NM_000383.4:c.879+58C= MANE Select NP_000374.1:n.879+58C=
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