Canonical Allele Identifier: CA151735
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 128339
ClinVar RCV Id: RCV000116302 RCV001618265 RCV001521472
dbSNP Id: rs1055311
ExAC: 21:45709568 C / T
gnomAD v2: 21-45709568-C-T
gnomAD v3: 21-44289685-C-T
gnomAD v4: 21-44289685-C-T
MyVariant Identifiers: chr21:g.45709568C>T (hg19) chr21:g.44289685C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289685C>T , CM000683.2:g.44289685C>T GRCh38
NC_000021.8:g.45709568C>T , CM000683.1:g.45709568C>T GRCh37
NC_000021.7:g.44533996C>T NCBI36
NG_009556.1:g.8806C>T , LRG_18:g.8806C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.681C>T MANE Select ENSP00000291582.5:p.Gly227=
ENST00000291582.5:c.681C>T ENSP00000291582.5:p.Gly227=
ENST00000527919.5:n.1414C>T
ENST00000530812.5:n.2431C>T
NM_000383.3:c.681C>T NP_000374.1:p.Gly227=
XM_011529551.1:c.681C>T XP_011527853.1:p.Gly227=
NM_000383.4:c.681C>T MANE Select NP_000374.1:p.Gly227=
Search 100 bp 5'
Search 100 bp 3'