Canonical Allele Identifier: CA410424739
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 2913919
ClinVar RCV Id: RCV003637423 RCV003886639
dbSNP Id: rs1385283838
gnomAD v3: 21-44290054-C-A
gnomAD v4: 21-44290054-C-A
MyVariant Identifiers: chr21:g.45709937C>A (hg19) chr21:g.44290054C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290054C>A , CM000683.2:g.44290054C>A GRCh38
NC_000021.8:g.45709937C>A , CM000683.1:g.45709937C>A GRCh37
NC_000021.7:g.44534365C>A NCBI36
NG_009556.1:g.9175C>A , LRG_18:g.9175C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.865C>A MANE Select ENSP00000291582.5:p.Pro289Thr
ENST00000291582.5:c.865C>A ENSP00000291582.5:p.Pro289Thr
ENST00000527919.5:n.1598C>A
ENST00000530812.5:n.2615C>A
NM_000383.3:c.865C>A NP_000374.1:p.Pro289Thr
XM_011529551.1:c.865C>A XP_011527853.1:p.Pro289Thr
NM_000383.4:c.865C>A MANE Select NP_000374.1:p.Pro289Thr
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