Canonical Allele Identifier: CA410423277
Gene: AIRE HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.45706477A>C (hg19) chr21:g.44286594A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44286594A>C , CM000683.2:g.44286594A>C GRCh38
NC_000021.8:g.45706477A>C , CM000683.1:g.45706477A>C GRCh37
NC_000021.7:g.44530905A>C NCBI36
NG_009556.1:g.5715A>C , LRG_18:g.5715A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.170A>C MANE Select ENSP00000291582.5:p.Gln57Pro
ENST00000291582.5:c.170A>C ENSP00000291582.5:p.Gln57Pro
ENST00000527919.5:n.331A>C
ENST00000530812.5:n.339A>C
NM_000383.3:c.170A>C NP_000374.1:p.Gln57Pro
XM_011529551.1:c.170A>C XP_011527853.1:p.Gln57Pro
NM_000383.4:c.170A>C MANE Select NP_000374.1:p.Gln57Pro
Search 100 bp 5'
Search 100 bp 3'