Canonical Allele Identifier: CA2739741934
Gene: AIRE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290879G>A , CM000683.2:g.44290879G>A GRCh38
NC_000021.8:g.45710762G>A , CM000683.1:g.45710762G>A GRCh37
NC_000021.7:g.44535190G>A NCBI36
NG_009556.1:g.10000G>A , LRG_18:g.10000G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.880-216G>A MANE Select ENSP00000291582.5:n.880-216G>A
ENST00000291582.5:c.880-216G>A ENSP00000291582.5:n.880-216G>A
ENST00000337909.5:n.125G>A
ENST00000397994.8:n.125G>A
ENST00000527919.5:n.1613-219G>A
ENST00000530812.5:n.2630-219G>A
NM_000383.3:c.880-216G>A NP_000374.1:n.880-216G>A
XM_011529551.1:c.880-219G>A XP_011527853.1:n.880-219G>A
NM_000383.4:c.880-216G>A MANE Select NP_000374.1:n.880-216G>A
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