Canonical Allele Identifier: CA410423498
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 2501923
ClinVar RCV Id: RCV003228342 RCV003779824
gnomAD v4: 21-44286702-T-A
MyVariant Identifiers: chr21:g.45706585T>A (hg19) chr21:g.44286702T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44286702T>A , CM000683.2:g.44286702T>A GRCh38
NC_000021.8:g.45706585T>A , CM000683.1:g.45706585T>A GRCh37
NC_000021.7:g.44531013T>A NCBI36
NG_009556.1:g.5823T>A , LRG_18:g.5823T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.278T>A MANE Select ENSP00000291582.5:p.Leu93Gln
ENST00000291582.5:c.278T>A ENSP00000291582.5:p.Leu93Gln
ENST00000527919.5:n.439T>A
ENST00000530812.5:n.447T>A
NM_000383.3:c.278T>A NP_000374.1:p.Leu93Gln
XM_011529551.1:c.278T>A XP_011527853.1:p.Leu93Gln
NM_000383.4:c.278T>A MANE Select NP_000374.1:p.Leu93Gln
Search 100 bp 5'
Search 100 bp 3'