Canonical Allele Identifier: CA512490765
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs2040503757
gnomAD v3: 21-44288436-C-A
gnomAD v4: 21-44288436-C-A
MyVariant Identifiers: chr21:g.45708319C>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288436C>A , CM000683.2:g.44288436C>A GRCh38
NC_000021.8:g.45708319C>A , CM000683.1:g.45708319C>A GRCh37
NC_000021.7:g.44532747C>A NCBI36
NG_009556.1:g.7557C>A , LRG_18:g.7557C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.630C>A MANE Select ENSP00000291582.5:p.Leu210=
ENST00000291582.5:c.630C>A ENSP00000291582.5:p.Leu210=
ENST00000527919.5:n.1174C>A
ENST00000530812.5:n.1182C>A
NM_000383.3:c.630C>A NP_000374.1:p.Leu210=
XM_011529551.1:c.630C>A XP_011527853.1:p.Leu210=
NM_000383.4:c.630C>A MANE Select NP_000374.1:p.Leu210=
Search 100 bp 5'
Search 100 bp 3'