Canonical Allele Identifier: CA512490968
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1105397
ClinVar RCV Id: RCV001429777
dbSNP Id: rs149130190
gnomAD v2: 21-45709604-C-G
gnomAD v4: 21-44289721-C-G
MyVariant Identifiers: chr21:g.45709604C>G (hg19) chr21:g.44289721C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289721C>G , CM000683.2:g.44289721C>G GRCh38
NC_000021.8:g.45709604C>G , CM000683.1:g.45709604C>G GRCh37
NC_000021.7:g.44534032C>G NCBI36
NG_009556.1:g.8842C>G , LRG_18:g.8842C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.717C>G MANE Select ENSP00000291582.5:p.Ser239=
ENST00000291582.5:c.717C>G ENSP00000291582.5:p.Ser239=
ENST00000527919.5:n.1450C>G
ENST00000530812.5:n.2467C>G
NM_000383.3:c.717C>G NP_000374.1:p.Ser239=
XM_011529551.1:c.717C>G XP_011527853.1:p.Ser239=
NM_000383.4:c.717C>G MANE Select NP_000374.1:p.Ser239=
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