Canonical Allele Identifier: CA16042013
Gene: AIRE HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370090
ClinVar RCV Id: RCV000410887
dbSNP Id: rs1057516225

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44286679C>A , CM000683.2:g.44286679C>A GRCh38
NC_000021.8:g.45706562C>A , CM000683.1:g.45706562C>A GRCh37
NC_000021.7:g.44530990C>A NCBI36
NG_009556.1:g.5800C>A , LRG_18:g.5800C>A

Transcript Alleles

HGVS Amino-acid change
NM_000383.3:c.255C>A VV NP_000374.1:p.Tyr85Ter
XM_011529551.1:c.255C>A XP_011527853.1:p.Tyr85Ter
ENST00000291582.5:c.255C>A ENSP00000291582.5:p.Tyr85Ter
ENST00000527919.5:n.416C>A
ENST00000530812.5:n.424C>A