Canonical Allele Identifier: CA10051691
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs775813007
ExAC: 21:45709624 C / T
gnomAD v4: 21-44289741-C-T
MyVariant Identifiers: chr21:g.45709624C>T (hg19) chr21:g.44289741C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289741C>T , CM000683.2:g.44289741C>T GRCh38
NC_000021.8:g.45709624C>T , CM000683.1:g.45709624C>T GRCh37
NC_000021.7:g.44534052C>T NCBI36
NG_009556.1:g.8862C>T , LRG_18:g.8862C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.737C>T MANE Select ENSP00000291582.5:p.Ala246Val
ENST00000291582.5:c.737C>T ENSP00000291582.5:p.Ala246Val
ENST00000527919.5:n.1470C>T
ENST00000530812.5:n.2487C>T
NM_000383.3:c.737C>T NP_000374.1:p.Ala246Val
XM_011529551.1:c.737C>T XP_011527853.1:p.Ala246Val
NM_000383.4:c.737C>T MANE Select NP_000374.1:p.Ala246Val
Search 100 bp 5'
Search 100 bp 3'