Canonical Allele Identifier: CA321793435
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs991668836
gnomAD v3: 21-44290213-T-C
gnomAD v4: 21-44290213-T-C
MyVariant Identifiers: chr21:g.45710096T>C (hg19) chr21:g.44290213T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290213T>C , CM000683.2:g.44290213T>C GRCh38
NC_000021.8:g.45710096T>C , CM000683.1:g.45710096T>C GRCh37
NC_000021.7:g.44534524T>C NCBI36
NG_009556.1:g.9334T>C , LRG_18:g.9334T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.879+145T>C MANE Select ENSP00000291582.5:n.879+145T>C
ENST00000291582.5:c.879+145T>C ENSP00000291582.5:n.879+145T>C
ENST00000527919.5:n.1612+145T>C
ENST00000530812.5:n.2629+145T>C
NM_000383.3:c.879+145T>C NP_000374.1:n.879+145T>C
XM_011529551.1:c.879+145T>C XP_011527853.1:n.879+145T>C
NM_000383.4:c.879+145T>C MANE Select NP_000374.1:n.879+145T>C
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