Canonical Allele Identifier: CA512491461
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 2843839
ClinVar RCV Id: RCV003637852
dbSNP Id: rs1445602810

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44292305G>A , CM000683.2:g.44292305G>A GRCh38
NC_000021.8:g.45712188G>A , CM000683.1:g.45712188G>A GRCh37
NC_000021.7:g.44536616G>A NCBI36
NG_009556.1:g.11426G>A , LRG_18:g.11426G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.999G>A MANE Select ENSP00000291582.5:p.Gly333=
ENST00000291582.5:c.999G>A ENSP00000291582.5:p.Gly333=
ENST00000337909.5:n.460G>A
ENST00000397994.8:n.460G>A
ENST00000527919.5:n.1729G>A
ENST00000530812.5:n.2746G>A
NM_000383.3:c.999G>A NP_000374.1:p.Gly333=
XM_011529551.1:c.996G>A XP_011527853.1:p.Gly332=
NM_000383.4:c.999G>A MANE Select NP_000374.1:p.Gly333=