Canonical Allele Identifier: CA638115904
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1125355
ClinVar RCV Id: RCV001457052
dbSNP Id: rs1287851004
gnomAD v2: 21-45709864-C-T
gnomAD v3: 21-44289981-C-T
gnomAD v4: 21-44289981-C-T
MyVariant Identifiers: chr21:g.45709864C>T (hg19) chr21:g.44289981C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289981C>T , CM000683.2:g.44289981C>T GRCh38
NC_000021.8:g.45709864C>T , CM000683.1:g.45709864C>T GRCh37
NC_000021.7:g.44534292C>T NCBI36
NG_009556.1:g.9102C>T , LRG_18:g.9102C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.799-7C>T MANE Select ENSP00000291582.5:n.799-7C>T
ENST00000291582.5:c.799-7C>T ENSP00000291582.5:n.799-7C>T
ENST00000527919.5:n.1532-7C>T
ENST00000530812.5:n.2549-7C>T
NM_000383.3:c.799-7C>T NP_000374.1:n.799-7C>T
XM_011529551.1:c.799-7C>T XP_011527853.1:n.799-7C>T
NM_000383.4:c.799-7C>T MANE Select NP_000374.1:n.799-7C>T
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