Canonical Allele Identifier: CA116134
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 3307
ClinVar RCV Id: RCV000179294 RCV000378770 RCV003421900
dbSNP Id: rs121434254
ExAC: 21:45709656 C / T
gnomAD v2: 21-45709656-C-T
gnomAD v3: 21-44289773-C-T
gnomAD v4: 21-44289773-C-T
MyVariant Identifiers: chr21:g.45709656C>T (hg19) chr21:g.44289773C>T (hg38)
PubMed: PMID:6031738 PMID:9398839 PMID:9398840 PMID:9921903 PMID:12050215 PMID:16965330 PMID:17539912 PMID:19807739
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289773C>T , CM000683.2:g.44289773C>T GRCh38
NC_000021.8:g.45709656C>T , CM000683.1:g.45709656C>T GRCh37
NC_000021.7:g.44534084C>T NCBI36
NG_009556.1:g.8894C>T , LRG_18:g.8894C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.769C>T MANE Select ENSP00000291582.5:p.Arg257Ter
ENST00000291582.5:c.769C>T ENSP00000291582.5:p.Arg257Ter
ENST00000527919.5:n.1502C>T
ENST00000530812.5:n.2519C>T
NM_000383.3:c.769C>T NP_000374.1:p.Arg257Ter
XM_011529551.1:c.769C>T XP_011527853.1:p.Arg257Ter
NM_000383.4:c.769C>T MANE Select NP_000374.1:p.Arg257Ter
Search 100 bp 5'
Search 100 bp 3'