Canonical Allele Identifier: CA10051711
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 790228
ClinVar RCV Id: RCV000972980
dbSNP Id: rs41277550
ExAC: 21:45709685 C / G
gnomAD v2: 21-45709685-C-G
gnomAD v3: 21-44289802-C-G
gnomAD v4: 21-44289802-C-G
MyVariant Identifiers: chr21:g.45709685C>G (hg19) chr21:g.44289802C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289802C>G , CM000683.2:g.44289802C>G GRCh38
NC_000021.8:g.45709685C>G , CM000683.1:g.45709685C>G GRCh37
NC_000021.7:g.44534113C>G NCBI36
NG_009556.1:g.8923C>G , LRG_18:g.8923C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.798C>G MANE Select ENSP00000291582.5:p.Pro266=
ENST00000291582.5:c.798C>G ENSP00000291582.5:p.Pro266=
ENST00000527919.5:n.1531C>G
ENST00000530812.5:n.2548C>G
NM_000383.3:c.798C>G NP_000374.1:p.Pro266=
XM_011529551.1:c.798C>G XP_011527853.1:p.Pro266=
NM_000383.4:c.798C>G MANE Select NP_000374.1:p.Pro266=
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