Canonical Allele Identifier: CA10051696
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 967483
ClinVar RCV Id: RCV001242405
dbSNP Id: rs141480813
ExAC: 21:45709635 A / T
gnomAD v2: 21-45709635-A-T
gnomAD v3: 21-44289752-A-T
gnomAD v4: 21-44289752-A-T
MyVariant Identifiers: chr21:g.45709635A>T (hg19) chr21:g.44289752A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289752A>T , CM000683.2:g.44289752A>T GRCh38
NC_000021.8:g.45709635A>T , CM000683.1:g.45709635A>T GRCh37
NC_000021.7:g.44534063A>T NCBI36
NG_009556.1:g.8873A>T , LRG_18:g.8873A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.748A>T MANE Select ENSP00000291582.5:p.Ser250Cys
ENST00000291582.5:c.748A>T ENSP00000291582.5:p.Ser250Cys
ENST00000527919.5:n.1481A>T
ENST00000530812.5:n.2498A>T
NM_000383.3:c.748A>T NP_000374.1:p.Ser250Cys
XM_011529551.1:c.748A>T XP_011527853.1:p.Ser250Cys
NM_000383.4:c.748A>T MANE Select NP_000374.1:p.Ser250Cys
Search 100 bp 5'
Search 100 bp 3'