Canonical Allele Identifier: CA16042023
Gene: AIRE HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371075
ClinVar RCV Id: RCV000410277
dbSNP Id: rs1057516985

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44296447T>A , CM000683.2:g.44296447T>A GRCh38
NC_000021.8:g.45716330T>A , CM000683.1:g.45716330T>A GRCh37
NC_000021.7:g.44540758T>A NCBI36
NG_009556.1:g.15568T>A , LRG_18:g.15568T>A
NG_034033.1:g.1414T>A

Transcript Alleles

HGVS Amino-acid change
NM_000383.3:c.1566+2T>A VV NP_000374.1:p.=
XM_011529551.1:c.1563+2T>A XP_011527853.1:p.=
ENST00000291582.5:c.1566+2T>A ENSP00000291582.5:p.=
ENST00000337909.5:n.1027+2T>A
ENST00000397994.8:n.945+2T>A
ENST00000527919.5:n.2325+2T>A
ENST00000530812.5:n.3313+2T>A