Canonical Allele Identifier: CA410424475
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 2118806
ClinVar RCV Id: RCV003032777
MyVariant Identifiers: chr21:g.45709621A>G (hg19) chr21:g.44289738A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289738A>G , CM000683.2:g.44289738A>G GRCh38
NC_000021.8:g.45709621A>G , CM000683.1:g.45709621A>G GRCh37
NC_000021.7:g.44534049A>G NCBI36
NG_009556.1:g.8859A>G , LRG_18:g.8859A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.734A>G MANE Select ENSP00000291582.5:p.Lys245Arg
ENST00000291582.5:c.734A>G ENSP00000291582.5:p.Lys245Arg
ENST00000527919.5:n.1467A>G
ENST00000530812.5:n.2484A>G
NM_000383.3:c.734A>G NP_000374.1:p.Lys245Arg
XM_011529551.1:c.734A>G XP_011527853.1:p.Lys245Arg
NM_000383.4:c.734A>G MANE Select NP_000374.1:p.Lys245Arg
Search 100 bp 5'
Search 100 bp 3'