Canonical Allele Identifier: CA10051688
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 966668
ClinVar RCV Id: RCV001241402
dbSNP Id: rs142286875
ExAC: 21:45709605 G / A
gnomAD v2: 21-45709605-G-A
gnomAD v3: 21-44289722-G-A
gnomAD v4: 21-44289722-G-A
MyVariant Identifiers: chr21:g.45709605G>A (hg19) chr21:g.44289722G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289722G>A , CM000683.2:g.44289722G>A GRCh38
NC_000021.8:g.45709605G>A , CM000683.1:g.45709605G>A GRCh37
NC_000021.7:g.44534033G>A NCBI36
NG_009556.1:g.8843G>A , LRG_18:g.8843G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.718G>A MANE Select ENSP00000291582.5:p.Gly240Ser
ENST00000291582.5:c.718G>A ENSP00000291582.5:p.Gly240Ser
ENST00000527919.5:n.1451G>A
ENST00000530812.5:n.2468G>A
NM_000383.3:c.718G>A NP_000374.1:p.Gly240Ser
XM_011529551.1:c.718G>A XP_011527853.1:p.Gly240Ser
NM_000383.4:c.718G>A MANE Select NP_000374.1:p.Gly240Ser
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Search 100 bp 3'