Canonical Allele Identifier: CA2654789379
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44287479-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287479A>G , CM000683.2:g.44287479A>G GRCh38
NC_000021.8:g.45707362A>G , CM000683.1:g.45707362A>G GRCh37
NC_000021.7:g.44531790A>G NCBI36
NG_009556.1:g.6600A>G , LRG_18:g.6600A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.464-38A>G MANE Select ENSP00000291582.5:n.464-38A>G
ENST00000291582.5:c.464-38A>G ENSP00000291582.5:n.464-38A>G
ENST00000527919.5:n.970A>G
ENST00000530812.5:n.978A>G
NM_000383.3:c.464-38A>G NP_000374.1:n.464-38A>G
XM_011529551.1:c.464-38A>G XP_011527853.1:n.464-38A>G
NM_000383.4:c.464-38A>G MANE Select NP_000374.1:n.464-38A>G
Search 100 bp 5'
Search 100 bp 3'