Canonical Allele Identifier: CA2654793687
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44290817-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290817T>G , CM000683.2:g.44290817T>G GRCh38
NC_000021.8:g.45710700T>G , CM000683.1:g.45710700T>G GRCh37
NC_000021.7:g.44535128T>G NCBI36
NG_009556.1:g.9938T>G , LRG_18:g.9938T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.880-278T>G MANE Select ENSP00000291582.5:n.880-278T>G
ENST00000291582.5:c.880-278T>G ENSP00000291582.5:n.880-278T>G
ENST00000337909.5:n.63T>G
ENST00000397994.8:n.63T>G
ENST00000527919.5:n.1613-281T>G
ENST00000530812.5:n.2630-281T>G
NM_000383.3:c.880-278T>G NP_000374.1:n.880-278T>G
XM_011529551.1:c.880-281T>G XP_011527853.1:n.880-281T>G
NM_000383.4:c.880-278T>G MANE Select NP_000374.1:n.880-278T>G
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