Canonical Allele Identifier: CA321788311
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 983805
ClinVar RCV Id: RCV001263808
dbSNP Id: rs1029475010
gnomAD v3: 21-44288443-C-T
gnomAD v4: 21-44288443-C-T
COSMIC: COSM6467999
MyVariant Identifiers: chr21:g.45708326C>T (hg19) chr21:g.44288443C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288443C>T , CM000683.2:g.44288443C>T GRCh38
NC_000021.8:g.45708326C>T , CM000683.1:g.45708326C>T GRCh37
NC_000021.7:g.44532754C>T NCBI36
NG_009556.1:g.7564C>T , LRG_18:g.7564C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.637C>T MANE Select ENSP00000291582.5:p.Gln213Ter
ENST00000291582.5:c.637C>T ENSP00000291582.5:p.Gln213Ter
ENST00000527919.5:n.1181C>T
ENST00000530812.5:n.1189C>T
NM_000383.3:c.637C>T NP_000374.1:p.Gln213Ter
XM_011529551.1:c.637C>T XP_011527853.1:p.Gln213Ter
NM_000383.4:c.637C>T MANE Select NP_000374.1:p.Gln213Ter
Search 100 bp 5'
Search 100 bp 3'