Canonical Allele Identifier: CA2654796502
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 2829129
ClinVar RCV Id: RCV003637357
gnomAD v4: 21-44296457-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44296457C>A , CM000683.2:g.44296457C>A GRCh38
NC_000021.8:g.45716340C>A , CM000683.1:g.45716340C>A GRCh37
NC_000021.7:g.44540768C>A NCBI36
NG_009556.1:g.15578C>A , LRG_18:g.15578C>A
NG_034033.1:g.1424C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.1566+12C>A MANE Select ENSP00000291582.5:n.1566+12C>A
ENST00000291582.5:c.1566+12C>A ENSP00000291582.5:n.1566+12C>A
ENST00000337909.5:n.1027+12C>A
ENST00000397994.8:n.945+12C>A
ENST00000527919.5:n.2325+12C>A
ENST00000530812.5:n.3313+12C>A
NM_000383.3:c.1566+12C>A NP_000374.1:n.1566+12C>A
XM_011529551.1:c.1563+12C>A XP_011527853.1:n.1563+12C>A
NM_000383.4:c.1566+12C>A MANE Select NP_000374.1:n.1566+12C>A
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