Canonical Allele Identifier: CA1022714443
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs2040522453
gnomAD v3: 21-44290212-A-G
gnomAD v4: 21-44290212-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290212A>G , CM000683.2:g.44290212A>G GRCh38
NC_000021.8:g.45710095A>G , CM000683.1:g.45710095A>G GRCh37
NC_000021.7:g.44534523A>G NCBI36
NG_009556.1:g.9333A>G , LRG_18:g.9333A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.879+144A>G MANE Select ENSP00000291582.5:n.879+144A>G
ENST00000291582.5:c.879+144A>G ENSP00000291582.5:n.879+144A>G
ENST00000527919.5:n.1612+144A>G
ENST00000530812.5:n.2629+144A>G
NM_000383.3:c.879+144A>G NP_000374.1:n.879+144A>G
XM_011529551.1:c.879+144A>G XP_011527853.1:n.879+144A>G
NM_000383.4:c.879+144A>G MANE Select NP_000374.1:n.879+144A>G
Search 100 bp 5'
Search 100 bp 3'