Canonical Allele Identifier: CA410424540
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 647887
ClinVar RCV Id: RCV000802507
dbSNP Id: rs753558091
MyVariant Identifiers: chr21:g.45709653G>A (hg19) chr21:g.44289770G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289770G>A , CM000683.2:g.44289770G>A GRCh38
NC_000021.8:g.45709653G>A , CM000683.1:g.45709653G>A GRCh37
NC_000021.7:g.44534081G>A NCBI36
NG_009556.1:g.8891G>A , LRG_18:g.8891G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.766G>A MANE Select ENSP00000291582.5:p.Val256Ile
ENST00000291582.5:c.766G>A ENSP00000291582.5:p.Val256Ile
ENST00000527919.5:n.1499G>A
ENST00000530812.5:n.2516G>A
NM_000383.3:c.766G>A NP_000374.1:p.Val256Ile
XM_011529551.1:c.766G>A XP_011527853.1:p.Val256Ile
NM_000383.4:c.766G>A MANE Select NP_000374.1:p.Val256Ile
Search 100 bp 5'
Search 100 bp 3'