Canonical Allele Identifier: CA410424503
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44289752-A-C
MyVariant Identifiers: chr21:g.45709635A>C (hg19) chr21:g.44289752A>C (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.748A>C MANE Select ENSP00000291582.5:p.Ser250Arg
ENST00000291582.5:c.748A>C ENSP00000291582.5:p.Ser250Arg
ENST00000527919.5:n.1481A>C
ENST00000530812.5:n.2498A>C
NM_000383.3:c.748A>C NP_000374.1:p.Ser250Arg
XM_011529551.1:c.748A>C XP_011527853.1:p.Ser250Arg
NM_000383.4:c.748A>C MANE Select NP_000374.1:p.Ser250Arg
Search 100 bp 5'
Search 100 bp 3'