Canonical Allele Identifier: CA199063
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 188800
ClinVar RCV Id: RCV000169131 RCV000413548
dbSNP Id: rs786204478
gnomAD v2: 21-45707018-T-C
gnomAD v3: 21-44287135-T-C
gnomAD v4: 21-44287135-T-C
MyVariant Identifiers: chr21:g.45707018T>C (hg19) chr21:g.44287135T>C (hg38)
PubMed: PMID:9921903 PMID:11524731 PMID:17189144 PMID:17220063
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287135T>C , CM000683.2:g.44287135T>C GRCh38
NC_000021.8:g.45707018T>C , CM000683.1:g.45707018T>C GRCh37
NC_000021.7:g.44531446T>C NCBI36
NG_009556.1:g.6256T>C , LRG_18:g.6256T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.463+2T>C MANE Select ENSP00000291582.5:n.463+2T>C
ENST00000291582.5:c.463+2T>C ENSP00000291582.5:n.463+2T>C
ENST00000527919.5:n.626T>C
ENST00000530812.5:n.634T>C
NM_000383.3:c.463+2T>C NP_000374.1:n.463+2T>C
XM_011529551.1:c.463+2T>C XP_011527853.1:n.463+2T>C
NM_000383.4:c.463+2T>C MANE Select NP_000374.1:n.463+2T>C
Search 100 bp 5'
Search 100 bp 3'