Canonical Allele Identifier: CA151732
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 128338
ClinVar RCV Id: RCV000116301 RCV001271172 RCV001682802
dbSNP Id: rs878081
ExAC: 21:45708277 C / T
gnomAD v2: 21-45708277-C-T
gnomAD v3: 21-44288394-C-T
gnomAD v4: 21-44288394-C-T
MyVariant Identifiers: chr21:g.45708277C>T (hg19) chr21:g.44288394C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288394C>T , CM000683.2:g.44288394C>T GRCh38
NC_000021.8:g.45708277C>T , CM000683.1:g.45708277C>T GRCh37
NC_000021.7:g.44532705C>T NCBI36
NG_009556.1:g.7515C>T , LRG_18:g.7515C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.588C>T MANE Select ENSP00000291582.5:p.Ser196=
ENST00000291582.5:c.588C>T ENSP00000291582.5:p.Ser196=
ENST00000527919.5:n.1132C>T
ENST00000530812.5:n.1140C>T
NM_000383.3:c.588C>T NP_000374.1:p.Ser196=
XM_011529551.1:c.588C>T XP_011527853.1:p.Ser196=
NM_000383.4:c.588C>T MANE Select NP_000374.1:p.Ser196=
Search 100 bp 5'
Search 100 bp 3'