Canonical Allele Identifier: CA512490992
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1094263
ClinVar RCV Id: RCV001414704
dbSNP Id: rs765738882
gnomAD v4: 21-44289760-G-T
MyVariant Identifiers: chr21:g.45709643G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289760G>T , CM000683.2:g.44289760G>T GRCh38
NC_000021.8:g.45709643G>T , CM000683.1:g.45709643G>T GRCh37
NC_000021.7:g.44534071G>T NCBI36
NG_009556.1:g.8881G>T , LRG_18:g.8881G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.756G>T MANE Select ENSP00000291582.5:p.Pro252=
ENST00000291582.5:c.756G>T ENSP00000291582.5:p.Pro252=
ENST00000527919.5:n.1489G>T
ENST00000530812.5:n.2506G>T
NM_000383.3:c.756G>T NP_000374.1:p.Pro252=
XM_011529551.1:c.756G>T XP_011527853.1:p.Pro252=
NM_000383.4:c.756G>T MANE Select NP_000374.1:p.Pro252=
Search 100 bp 5'
Search 100 bp 3'