Canonical Allele Identifier: CA410424417
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs908180454
MyVariant Identifiers: chr21:g.45709595C>A (hg19) chr21:g.44289712C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289712C>A , CM000683.2:g.44289712C>A GRCh38
NC_000021.8:g.45709595C>A , CM000683.1:g.45709595C>A GRCh37
NC_000021.7:g.44534023C>A NCBI36
NG_009556.1:g.8833C>A , LRG_18:g.8833C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.708C>A MANE Select ENSP00000291582.5:p.Phe236Leu
ENST00000291582.5:c.708C>A ENSP00000291582.5:p.Phe236Leu
ENST00000527919.5:n.1441C>A
ENST00000530812.5:n.2458C>A
NM_000383.3:c.708C>A NP_000374.1:p.Phe236Leu
XM_011529551.1:c.708C>A XP_011527853.1:p.Phe236Leu
NM_000383.4:c.708C>A MANE Select NP_000374.1:p.Phe236Leu
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