Canonical Allele Identifier: CA2654792982
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44290183-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290183T>A , CM000683.2:g.44290183T>A GRCh38
NC_000021.8:g.45710066T>A , CM000683.1:g.45710066T>A GRCh37
NC_000021.7:g.44534494T>A NCBI36
NG_009556.1:g.9304T>A , LRG_18:g.9304T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.879+115T>A MANE Select ENSP00000291582.5:n.879+115T>A
ENST00000291582.5:c.879+115T>A ENSP00000291582.5:n.879+115T>A
ENST00000527919.5:n.1612+115T>A
ENST00000530812.5:n.2629+115T>A
NM_000383.3:c.879+115T>A NP_000374.1:n.879+115T>A
XM_011529551.1:c.879+115T>A XP_011527853.1:n.879+115T>A
NM_000383.4:c.879+115T>A MANE Select NP_000374.1:n.879+115T>A
Search 100 bp 5'
Search 100 bp 3'