Canonical Allele Identifier: CA10051690
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 2832221
ClinVar RCV Id: RCV003637648
dbSNP Id: rs374588482
ExAC: 21:45709620 A / G
gnomAD v2: 21-45709620-A-G
gnomAD v3: 21-44289737-A-G
gnomAD v4: 21-44289737-A-G
MyVariant Identifiers: chr21:g.45709620A>G (hg19) chr21:g.44289737A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289737A>G , CM000683.2:g.44289737A>G GRCh38
NC_000021.8:g.45709620A>G , CM000683.1:g.45709620A>G GRCh37
NC_000021.7:g.44534048A>G NCBI36
NG_009556.1:g.8858A>G , LRG_18:g.8858A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.733A>G MANE Select ENSP00000291582.5:p.Lys245Glu
ENST00000291582.5:c.733A>G ENSP00000291582.5:p.Lys245Glu
ENST00000527919.5:n.1466A>G
ENST00000530812.5:n.2483A>G
NM_000383.3:c.733A>G NP_000374.1:p.Lys245Glu
XM_011529551.1:c.733A>G XP_011527853.1:p.Lys245Glu
NM_000383.4:c.733A>G MANE Select NP_000374.1:p.Lys245Glu
Search 100 bp 5'
Search 100 bp 3'