Canonical Allele Identifier: CA10051750
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1928680
ClinVar RCV Id: RCV002614644
dbSNP Id: rs775120946
ExAC: 21:45709923 C / G
gnomAD v2: 21-45709923-C-G
gnomAD v3: 21-44290040-C-G
gnomAD v4: 21-44290040-C-G
MyVariant Identifiers: chr21:g.45709923C>G (hg19) chr21:g.44290040C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290040C>G , CM000683.2:g.44290040C>G GRCh38
NC_000021.8:g.45709923C>G , CM000683.1:g.45709923C>G GRCh37
NC_000021.7:g.44534351C>G NCBI36
NG_009556.1:g.9161C>G , LRG_18:g.9161C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.851C>G MANE Select ENSP00000291582.5:p.Ala284Gly
ENST00000291582.5:c.851C>G ENSP00000291582.5:p.Ala284Gly
ENST00000527919.5:n.1584C>G
ENST00000530812.5:n.2601C>G
NM_000383.3:c.851C>G NP_000374.1:p.Ala284Gly
XM_011529551.1:c.851C>G XP_011527853.1:p.Ala284Gly
NM_000383.4:c.851C>G MANE Select NP_000374.1:p.Ala284Gly
Search 100 bp 5'
Search 100 bp 3'