Canonical Allele Identifier: CA321793404
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1222308
ClinVar RCV Id: RCV001597938
dbSNP Id: rs2075877
gnomAD v2: 21-45710052-G-A
gnomAD v3: 21-44290169-G-A
gnomAD v4: 21-44290169-G-A
MyVariant Identifiers: chr21:g.45710052G>A (hg19) chr21:g.44290169G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290169G>A , CM000683.2:g.44290169G>A GRCh38
NC_000021.8:g.45710052G>A , CM000683.1:g.45710052G>A GRCh37
NC_000021.7:g.44534480G>A NCBI36
NG_009556.1:g.9290G>A , LRG_18:g.9290G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.879+101G>A MANE Select ENSP00000291582.5:n.879+101G>A
ENST00000291582.5:c.879+101G>A ENSP00000291582.5:n.879+101G>A
ENST00000527919.5:n.1612+101G>A
ENST00000530812.5:n.2629+101G>A
NM_000383.3:c.879+101G>A NP_000374.1:n.879+101G>A
XM_011529551.1:c.879+101G>A XP_011527853.1:n.879+101G>A
NM_000383.4:c.879+101G>A MANE Select NP_000374.1:n.879+101G>A
Search 100 bp 5'
Search 100 bp 3'