Canonical Allele Identifier: CA410424809
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 999760
ClinVar RCV Id: RCV001295797
dbSNP Id: rs2040534355
MyVariant Identifiers: chr21:g.45710987G>A (hg19) chr21:g.44291104G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44291104G>A , CM000683.2:g.44291104G>A GRCh38
NC_000021.8:g.45710987G>A , CM000683.1:g.45710987G>A GRCh37
NC_000021.7:g.44535415G>A NCBI36
NG_009556.1:g.10225G>A , LRG_18:g.10225G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.889G>A MANE Select ENSP00000291582.5:p.Asp297Asn
ENST00000291582.5:c.889G>A ENSP00000291582.5:p.Asp297Asn
ENST00000337909.5:n.350G>A
ENST00000397994.8:n.350G>A
ENST00000527919.5:n.1619G>A
ENST00000530812.5:n.2636G>A
NM_000383.3:c.889G>A NP_000374.1:p.Asp297Asn
XM_011529551.1:c.886G>A XP_011527853.1:p.Asp296Asn
NM_000383.4:c.889G>A MANE Select NP_000374.1:p.Asp297Asn
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Search 100 bp 3'