Canonical Allele Identifier: CA410424485
Gene: AIRE HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.45709627G>C (hg19) chr21:g.44289744G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289744G>C , CM000683.2:g.44289744G>C GRCh38
NC_000021.8:g.45709627G>C , CM000683.1:g.45709627G>C GRCh37
NC_000021.7:g.44534055G>C NCBI36
NG_009556.1:g.8865G>C , LRG_18:g.8865G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.740G>C MANE Select ENSP00000291582.5:p.Arg247Pro
ENST00000291582.5:c.740G>C ENSP00000291582.5:p.Arg247Pro
ENST00000527919.5:n.1473G>C
ENST00000530812.5:n.2490G>C
NM_000383.3:c.740G>C NP_000374.1:p.Arg247Pro
XM_011529551.1:c.740G>C XP_011527853.1:p.Arg247Pro
NM_000383.4:c.740G>C MANE Select NP_000374.1:p.Arg247Pro
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