Canonical Allele Identifier: CA410424084
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 2180206
ClinVar RCV Id: RCV002619139
dbSNP Id: rs1601965676
gnomAD v4: 21-44288357-T-C
MyVariant Identifiers: chr21:g.45708240T>C (hg19) chr21:g.44288357T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288357T>C , CM000683.2:g.44288357T>C GRCh38
NC_000021.8:g.45708240T>C , CM000683.1:g.45708240T>C GRCh37
NC_000021.7:g.44532668T>C NCBI36
NG_009556.1:g.7478T>C , LRG_18:g.7478T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.551T>C MANE Select ENSP00000291582.5:p.Met184Thr
ENST00000291582.5:c.551T>C ENSP00000291582.5:p.Met184Thr
ENST00000527919.5:n.1095T>C
ENST00000530812.5:n.1103T>C
NM_000383.3:c.551T>C NP_000374.1:p.Met184Thr
XM_011529551.1:c.551T>C XP_011527853.1:p.Met184Thr
NM_000383.4:c.551T>C MANE Select NP_000374.1:p.Met184Thr
Search 100 bp 5'
Search 100 bp 3'