Canonical Allele Identifier: CA410424386
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs1448795841
gnomAD v4: 21-44289698-A-G
MyVariant Identifiers: chr21:g.45709581A>G (hg19) chr21:g.44289698A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289698A>G , CM000683.2:g.44289698A>G GRCh38
NC_000021.8:g.45709581A>G , CM000683.1:g.45709581A>G GRCh37
NC_000021.7:g.44534009A>G NCBI36
NG_009556.1:g.8819A>G , LRG_18:g.8819A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.694A>G MANE Select ENSP00000291582.5:p.Thr232Ala
ENST00000291582.5:c.694A>G ENSP00000291582.5:p.Thr232Ala
ENST00000527919.5:n.1427A>G
ENST00000530812.5:n.2444A>G
NM_000383.3:c.694A>G NP_000374.1:p.Thr232Ala
XM_011529551.1:c.694A>G XP_011527853.1:p.Thr232Ala
NM_000383.4:c.694A>G MANE Select NP_000374.1:p.Thr232Ala
Search 100 bp 5'
Search 100 bp 3'