Canonical Allele Identifier: CA512490995
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1136578
ClinVar RCV Id: RCV001472247
dbSNP Id: rs2146379321
gnomAD v4: 21-44289763-G-A
MyVariant Identifiers: chr21:g.45709646G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289763G>A , CM000683.2:g.44289763G>A GRCh38
NC_000021.8:g.45709646G>A , CM000683.1:g.45709646G>A GRCh37
NC_000021.7:g.44534074G>A NCBI36
NG_009556.1:g.8884G>A , LRG_18:g.8884G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.759G>A MANE Select ENSP00000291582.5:p.Lys253=
ENST00000291582.5:c.759G>A ENSP00000291582.5:p.Lys253=
ENST00000527919.5:n.1492G>A
ENST00000530812.5:n.2509G>A
NM_000383.3:c.759G>A NP_000374.1:p.Lys253=
XM_011529551.1:c.759G>A XP_011527853.1:p.Lys253=
NM_000383.4:c.759G>A MANE Select NP_000374.1:p.Lys253=
Search 100 bp 5'
Search 100 bp 3'