Canonical Allele Identifier: CA10051649
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs774634852
ExAC: 21:45708338 T / A
gnomAD v2: 21-45708338-T-A
gnomAD v4: 21-44288455-T-A
MyVariant Identifiers: chr21:g.45708338T>A (hg19) chr21:g.44288455T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288455T>A , CM000683.2:g.44288455T>A GRCh38
NC_000021.8:g.45708338T>A , CM000683.1:g.45708338T>A GRCh37
NC_000021.7:g.44532766T>A NCBI36
NG_009556.1:g.7576T>A , LRG_18:g.7576T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.649T>A MANE Select ENSP00000291582.5:p.Ser217Thr
ENST00000291582.5:c.649T>A ENSP00000291582.5:p.Ser217Thr
ENST00000527919.5:n.1193T>A
ENST00000530812.5:n.1201T>A
NM_000383.3:c.649T>A NP_000374.1:p.Ser217Thr
XM_011529551.1:c.649T>A XP_011527853.1:p.Ser217Thr
NM_000383.4:c.649T>A MANE Select NP_000374.1:p.Ser217Thr
Search 100 bp 5'
Search 100 bp 3'