Canonical Allele Identifier: CA10051753
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 640857
ClinVar RCV Id: RCV000793969
dbSNP Id: rs375819189
ExAC: 21:45709932 G / A
gnomAD v2: 21-45709932-G-A
gnomAD v3: 21-44290049-G-A
gnomAD v4: 21-44290049-G-A
MyVariant Identifiers: chr21:g.45709932G>A (hg19) chr21:g.44290049G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290049G>A , CM000683.2:g.44290049G>A GRCh38
NC_000021.8:g.45709932G>A , CM000683.1:g.45709932G>A GRCh37
NC_000021.7:g.44534360G>A NCBI36
NG_009556.1:g.9170G>A , LRG_18:g.9170G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.860G>A MANE Select ENSP00000291582.5:p.Ser287Asn
ENST00000291582.5:c.860G>A ENSP00000291582.5:p.Ser287Asn
ENST00000527919.5:n.1593G>A
ENST00000530812.5:n.2610G>A
NM_000383.3:c.860G>A NP_000374.1:p.Ser287Asn
XM_011529551.1:c.860G>A XP_011527853.1:p.Ser287Asn
NM_000383.4:c.860G>A MANE Select NP_000374.1:p.Ser287Asn
Search 100 bp 5'
Search 100 bp 3'