Canonical Allele Identifier: CA144209
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 56223
ClinVar RCV Id: RCV000049634
dbSNP Id: rs386833674
MyVariant Identifiers: chr21:g.45711030G>A (hg19) chr21:g.44291147G>A (hg38)
PubMed: PMID:10677297
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44291147G>A , CM000683.2:g.44291147G>A GRCh38
NC_000021.8:g.45711030G>A , CM000683.1:g.45711030G>A GRCh37
NC_000021.7:g.44535458G>A NCBI36
NG_009556.1:g.10268G>A , LRG_18:g.10268G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.932G>A MANE Select ENSP00000291582.5:p.Cys311Tyr
ENST00000291582.5:c.932G>A ENSP00000291582.5:p.Cys311Tyr
ENST00000337909.5:n.393G>A
ENST00000397994.8:n.393G>A
ENST00000527919.5:n.1662G>A
ENST00000530812.5:n.2679G>A
NM_000383.3:c.932G>A NP_000374.1:p.Cys311Tyr
XM_011529551.1:c.929G>A XP_011527853.1:p.Cys310Tyr
NM_000383.4:c.932G>A MANE Select NP_000374.1:p.Cys311Tyr
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