Canonical Allele Identifier: CA410426062
Gene: AIRE HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.45716268T>A (hg19) chr21:g.44296385T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44296385T>A , CM000683.2:g.44296385T>A GRCh38
NC_000021.8:g.45716268T>A , CM000683.1:g.45716268T>A GRCh37
NC_000021.7:g.44540696T>A NCBI36
NG_009556.1:g.15506T>A , LRG_18:g.15506T>A
NG_034033.1:g.1352T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.1506T>A MANE Select ENSP00000291582.5:p.Asp502Glu
ENST00000291582.5:c.1506T>A ENSP00000291582.5:p.Asp502Glu
ENST00000337909.5:n.967T>A
ENST00000397994.8:n.885T>A
ENST00000527919.5:n.2265T>A
ENST00000530812.5:n.3253T>A
NM_000383.3:c.1506T>A NP_000374.1:p.Asp502Glu
XM_011529551.1:c.1503T>A XP_011527853.1:p.Asp501Glu
NM_000383.4:c.1506T>A MANE Select NP_000374.1:p.Asp502Glu
Search 100 bp 5'
Search 100 bp 3'