Canonical Allele Identifier: CA2391570626
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1470271
ClinVar RCV Id: RCV001964096
dbSNP Id: rs2040609241
gnomAD v4: 21-44296460-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44296460G>A , CM000683.2:g.44296460G>A GRCh38
NC_000021.8:g.45716343G>A , CM000683.1:g.45716343G>A GRCh37
NC_000021.7:g.44540771G>A NCBI36
NG_009556.1:g.15581G>A , LRG_18:g.15581G>A
NG_034033.1:g.1427G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.1566+15G>A MANE Select ENSP00000291582.5:n.1566+15G>A
ENST00000291582.5:c.1566+15G>A ENSP00000291582.5:n.1566+15G>A
ENST00000337909.5:n.1027+15G>A
ENST00000397994.8:n.945+15G>A
ENST00000527919.5:n.2325+15G>A
ENST00000530812.5:n.3313+15G>A
NM_000383.3:c.1566+15G>A NP_000374.1:n.1566+15G>A
XM_011529551.1:c.1563+15G>A XP_011527853.1:n.1563+15G>A
NM_000383.4:c.1566+15G>A MANE Select NP_000374.1:n.1566+15G>A
Search 100 bp 5'
Search 100 bp 3'