Canonical Allele Identifier: CA2818036934
Gene: AIRE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44292404A>G , CM000683.2:g.44292404A>G GRCh38
NC_000021.8:g.45712287A>G , CM000683.1:g.45712287A>G GRCh37
NC_000021.7:g.44536715A>G NCBI36
NG_009556.1:g.11525A>G , LRG_18:g.11525A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.1095+3A>G MANE Select ENSP00000291582.5:n.1095+3A>G
ENST00000291582.5:c.1095+3A>G ENSP00000291582.5:n.1095+3A>G
ENST00000337909.5:n.556+3A>G
ENST00000397994.8:n.556+3A>G
ENST00000527919.5:n.1825+3A>G
ENST00000530812.5:n.2842+3A>G
NM_000383.3:c.1095+3A>G NP_000374.1:n.1095+3A>G
XM_011529551.1:c.1092+3A>G XP_011527853.1:n.1092+3A>G
NM_000383.4:c.1095+3A>G MANE Select NP_000374.1:n.1095+3A>G
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