Canonical Allele Identifier: CA213514
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 35668
ClinVar RCV Id: RCV000029316 RCV001818184 RCV004546415
dbSNP Id: rs34397615
ExAC: 21:45709642 C / T
gnomAD v2: 21-45709642-C-T
gnomAD v3: 21-44289759-C-T
gnomAD v4: 21-44289759-C-T
MyVariant Identifiers: chr21:g.45709642C>T (hg19) chr21:g.44289759C>T (hg38)
PubMed: PMID:11836330 PMID:16114041
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289759C>T , CM000683.2:g.44289759C>T GRCh38
NC_000021.8:g.45709642C>T , CM000683.1:g.45709642C>T GRCh37
NC_000021.7:g.44534070C>T NCBI36
NG_009556.1:g.8880C>T , LRG_18:g.8880C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.755C>T MANE Select ENSP00000291582.5:p.Pro252Leu
ENST00000291582.5:c.755C>T ENSP00000291582.5:p.Pro252Leu
ENST00000527919.5:n.1488C>T
ENST00000530812.5:n.2505C>T
NM_000383.3:c.755C>T NP_000374.1:p.Pro252Leu
XM_011529551.1:c.755C>T XP_011527853.1:p.Pro252Leu
NM_000383.4:c.755C>T MANE Select NP_000374.1:p.Pro252Leu
Search 100 bp 5'
Search 100 bp 3'