Canonical Allele Identifier: CA16042011
Gene: AIRE HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370150
ClinVar RCV Id: RCV000411673
dbSNP Id: rs1057516272

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44286581G>T , CM000683.2:g.44286581G>T GRCh38
NC_000021.8:g.45706464G>T , CM000683.1:g.45706464G>T GRCh37
NC_000021.7:g.44530892G>T NCBI36
NG_009556.1:g.5702G>T , LRG_18:g.5702G>T

Transcript Alleles

HGVS Amino-acid change
NM_000383.3:c.157G>T VV NP_000374.1:p.Glu53Ter
XM_011529551.1:c.157G>T XP_011527853.1:p.Glu53Ter
NM_000383.4:c.157G>T VV MANE Preferred NP_000374.1:p.Glu53Ter
ENST00000291582.5:c.157G>T ENSP00000291582.5:p.Glu53Ter
ENST00000527919.5:n.318G>T
ENST00000530812.5:n.326G>T