Canonical Allele Identifier: CA410424425
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1997465
ClinVar RCV Id: RCV002791785
dbSNP Id: rs1601966589
MyVariant Identifiers: chr21:g.45709599G>C (hg19) chr21:g.44289716G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289716G>C , CM000683.2:g.44289716G>C GRCh38
NC_000021.8:g.45709599G>C , CM000683.1:g.45709599G>C GRCh37
NC_000021.7:g.44534027G>C NCBI36
NG_009556.1:g.8837G>C , LRG_18:g.8837G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.712G>C MANE Select ENSP00000291582.5:p.Asp238His
ENST00000291582.5:c.712G>C ENSP00000291582.5:p.Asp238His
ENST00000527919.5:n.1445G>C
ENST00000530812.5:n.2462G>C
NM_000383.3:c.712G>C NP_000374.1:p.Asp238His
XM_011529551.1:c.712G>C XP_011527853.1:p.Asp238His
NM_000383.4:c.712G>C MANE Select NP_000374.1:p.Asp238His
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