Canonical Allele Identifier: CA410424181
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs2040503469
MyVariant Identifiers: chr21:g.45708290G>A (hg19) chr21:g.44288407G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288407G>A , CM000683.2:g.44288407G>A GRCh38
NC_000021.8:g.45708290G>A , CM000683.1:g.45708290G>A GRCh37
NC_000021.7:g.44532718G>A NCBI36
NG_009556.1:g.7528G>A , LRG_18:g.7528G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.601G>A MANE Select ENSP00000291582.5:p.Gly201Arg
ENST00000291582.5:c.601G>A ENSP00000291582.5:p.Gly201Arg
ENST00000527919.5:n.1145G>A
ENST00000530812.5:n.1153G>A
NM_000383.3:c.601G>A NP_000374.1:p.Gly201Arg
XM_011529551.1:c.601G>A XP_011527853.1:p.Gly201Arg
NM_000383.4:c.601G>A MANE Select NP_000374.1:p.Gly201Arg
Search 100 bp 5'
Search 100 bp 3'