Canonical Allele Identifier: CA512490957
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1665154
ClinVar RCV Id: RCV002193582
dbSNP Id: rs1601966572
gnomAD v4: 21-44289697-C-T
MyVariant Identifiers: chr21:g.45709580C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289697C>T , CM000683.2:g.44289697C>T GRCh38
NC_000021.8:g.45709580C>T , CM000683.1:g.45709580C>T GRCh37
NC_000021.7:g.44534008C>T NCBI36
NG_009556.1:g.8818C>T , LRG_18:g.8818C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.693C>T MANE Select ENSP00000291582.5:p.Tyr231=
ENST00000291582.5:c.693C>T ENSP00000291582.5:p.Tyr231=
ENST00000527919.5:n.1426C>T
ENST00000530812.5:n.2443C>T
NM_000383.3:c.693C>T NP_000374.1:p.Tyr231=
XM_011529551.1:c.693C>T XP_011527853.1:p.Tyr231=
NM_000383.4:c.693C>T MANE Select NP_000374.1:p.Tyr231=
Search 100 bp 5'
Search 100 bp 3'