Canonical Allele Identifier: CA410423421
Gene: AIRE HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.45706546T>A (hg19) chr21:g.44286663T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44286663T>A , CM000683.2:g.44286663T>A GRCh38
NC_000021.8:g.45706546T>A , CM000683.1:g.45706546T>A GRCh37
NC_000021.7:g.44530974T>A NCBI36
NG_009556.1:g.5784T>A , LRG_18:g.5784T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.239T>A MANE Select ENSP00000291582.5:p.Val80Glu
ENST00000291582.5:c.239T>A ENSP00000291582.5:p.Val80Glu
ENST00000527919.5:n.400T>A
ENST00000530812.5:n.408T>A
NM_000383.3:c.239T>A NP_000374.1:p.Val80Glu
XM_011529551.1:c.239T>A XP_011527853.1:p.Val80Glu
NM_000383.4:c.239T>A MANE Select NP_000374.1:p.Val80Glu
Search 100 bp 5'
Search 100 bp 3'