Canonical Allele Identifier: CA512490002
Gene: AIRE HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.45706448T>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44286565T>A , CM000683.2:g.44286565T>A GRCh38
NC_000021.8:g.45706448T>A , CM000683.1:g.45706448T>A GRCh37
NC_000021.7:g.44530876T>A NCBI36
NG_009556.1:g.5686T>A , LRG_18:g.5686T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.141T>A MANE Select ENSP00000291582.5:p.Leu47=
ENST00000291582.5:c.141T>A ENSP00000291582.5:p.Leu47=
ENST00000527919.5:n.302T>A
ENST00000530812.5:n.310T>A
NM_000383.3:c.141T>A NP_000374.1:p.Leu47=
XM_011529551.1:c.141T>A XP_011527853.1:p.Leu47=
NM_000383.4:c.141T>A MANE Select NP_000374.1:p.Leu47=
Search 100 bp 5'
Search 100 bp 3'