Canonical Allele Identifier: CA2739742042
Gene: AIRE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290952C>A , CM000683.2:g.44290952C>A GRCh38
NC_000021.8:g.45710835C>A , CM000683.1:g.45710835C>A GRCh37
NC_000021.7:g.44535263C>A NCBI36
NG_009556.1:g.10073C>A , LRG_18:g.10073C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.880-143C>A MANE Select ENSP00000291582.5:n.880-143C>A
ENST00000291582.5:c.880-143C>A ENSP00000291582.5:n.880-143C>A
ENST00000337909.5:n.198C>A
ENST00000397994.8:n.198C>A
ENST00000527919.5:n.1613-146C>A
ENST00000530812.5:n.2630-146C>A
NM_000383.3:c.880-143C>A NP_000374.1:n.880-143C>A
XM_011529551.1:c.880-146C>A XP_011527853.1:n.880-146C>A
NM_000383.4:c.880-143C>A MANE Select NP_000374.1:n.880-143C>A
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