Canonical Allele Identifier: CA2577620070
Gene: AIRE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44292209A>G , CM000683.2:g.44292209A>G GRCh38
NC_000021.8:g.45712092A>G , CM000683.1:g.45712092A>G GRCh37
NC_000021.7:g.44536520A>G NCBI36
NG_009556.1:g.11330A>G , LRG_18:g.11330A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.996-93A>G MANE Select ENSP00000291582.5:n.996-93A>G
ENST00000291582.5:c.996-93A>G ENSP00000291582.5:n.996-93A>G
ENST00000337909.5:n.457-93A>G
ENST00000397994.8:n.457-93A>G
ENST00000527919.5:n.1726-93A>G
ENST00000530812.5:n.2743-93A>G
NM_000383.3:c.996-93A>G NP_000374.1:n.996-93A>G
XM_011529551.1:c.993-93A>G XP_011527853.1:n.993-93A>G
NM_000383.4:c.996-93A>G MANE Select NP_000374.1:n.996-93A>G
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