Canonical Allele Identifier: CA10051692
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 2047618
ClinVar RCV Id: RCV002926898
dbSNP Id: rs147846074
ExAC: 21:45709626 C / T
gnomAD v2: 21-45709626-C-T
gnomAD v3: 21-44289743-C-T
gnomAD v4: 21-44289743-C-T
MyVariant Identifiers: chr21:g.45709626C>T (hg19) chr21:g.45709626_45709629delinsTGCA (hg19) chr21:g.44289743C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289743C>T , CM000683.2:g.44289743C>T GRCh38
NC_000021.8:g.45709626C>T , CM000683.1:g.45709626C>T GRCh37
NC_000021.7:g.44534054C>T NCBI36
NG_009556.1:g.8864C>T , LRG_18:g.8864C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.739C>T MANE Select ENSP00000291582.5:p.Arg247Cys
ENST00000291582.5:c.739C>T ENSP00000291582.5:p.Arg247Cys
ENST00000527919.5:n.1472C>T
ENST00000530812.5:n.2489C>T
NM_000383.3:c.739C>T NP_000374.1:p.Arg247Cys
XM_011529551.1:c.739C>T XP_011527853.1:p.Arg247Cys
NM_000383.4:c.739C>T MANE Select NP_000374.1:p.Arg247Cys
Search 100 bp 5'
Search 100 bp 3'