Canonical Allele Identifier: CA410423512
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1466649
ClinVar RCV Id: RCV001959558
dbSNP Id: rs2146375950
MyVariant Identifiers: chr21:g.45706593A>C (hg19) chr21:g.44286710A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44286710A>C , CM000683.2:g.44286710A>C GRCh38
NC_000021.8:g.45706593A>C , CM000683.1:g.45706593A>C GRCh37
NC_000021.7:g.44531021A>C NCBI36
NG_009556.1:g.5831A>C , LRG_18:g.5831A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.286A>C MANE Select ENSP00000291582.5:p.Ile96Leu
ENST00000291582.5:c.286A>C ENSP00000291582.5:p.Ile96Leu
ENST00000527919.5:n.447A>C
ENST00000530812.5:n.455A>C
NM_000383.3:c.286A>C NP_000374.1:p.Ile96Leu
XM_011529551.1:c.286A>C XP_011527853.1:p.Ile96Leu
NM_000383.4:c.286A>C MANE Select NP_000374.1:p.Ile96Leu
Search 100 bp 5'
Search 100 bp 3'