Canonical Allele Identifier: CA213514

Gene: AIRE

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

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