Canonical Allele Identifier: CA410424755
Gene: AIRE HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.45709944T>A (hg19) chr21:g.44290061T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290061T>A , CM000683.2:g.44290061T>A GRCh38
NC_000021.8:g.45709944T>A , CM000683.1:g.45709944T>A GRCh37
NC_000021.7:g.44534372T>A NCBI36
NG_009556.1:g.9182T>A , LRG_18:g.9182T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.872T>A MANE Select ENSP00000291582.5:p.Leu291His
ENST00000291582.5:c.872T>A ENSP00000291582.5:p.Leu291His
ENST00000527919.5:n.1605T>A
ENST00000530812.5:n.2622T>A
NM_000383.3:c.872T>A NP_000374.1:p.Leu291His
XM_011529551.1:c.872T>A XP_011527853.1:p.Leu291His
NM_000383.4:c.872T>A MANE Select NP_000374.1:p.Leu291His
Search 100 bp 5'
Search 100 bp 3'