Canonical Allele Identifier: CA410424281
Gene: AIRE HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.45708338T>C (hg19) chr21:g.44288455T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288455T>C , CM000683.2:g.44288455T>C GRCh38
NC_000021.8:g.45708338T>C , CM000683.1:g.45708338T>C GRCh37
NC_000021.7:g.44532766T>C NCBI36
NG_009556.1:g.7576T>C , LRG_18:g.7576T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.649T>C MANE Select ENSP00000291582.5:p.Ser217Pro
ENST00000291582.5:c.649T>C ENSP00000291582.5:p.Ser217Pro
ENST00000527919.5:n.1193T>C
ENST00000530812.5:n.1201T>C
NM_000383.3:c.649T>C NP_000374.1:p.Ser217Pro
XM_011529551.1:c.649T>C XP_011527853.1:p.Ser217Pro
NM_000383.4:c.649T>C MANE Select NP_000374.1:p.Ser217Pro
Search 100 bp 5'
Search 100 bp 3'