Canonical Allele Identifier: CA16042012
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 370451
ClinVar RCV Id: RCV000409857
dbSNP Id: rs1057516499
gnomAD v4: 21-44286657-G-A
MyVariant Identifiers: chr21:g.45706540G>A (hg19) chr21:g.44286657G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44286657G>A , CM000683.2:g.44286657G>A GRCh38
NC_000021.8:g.45706540G>A , CM000683.1:g.45706540G>A GRCh37
NC_000021.7:g.44530968G>A NCBI36
NG_009556.1:g.5778G>A , LRG_18:g.5778G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.233G>A MANE Select ENSP00000291582.5:p.Trp78Ter
ENST00000291582.5:c.233G>A ENSP00000291582.5:p.Trp78Ter
ENST00000527919.5:n.394G>A
ENST00000530812.5:n.402G>A
NM_000383.3:c.233G>A NP_000374.1:p.Trp78Ter
XM_011529551.1:c.233G>A XP_011527853.1:p.Trp78Ter
NM_000383.4:c.233G>A MANE Select NP_000374.1:p.Trp78Ter
Search 100 bp 5'
Search 100 bp 3'