Canonical Allele Identifier: CA410424097
Gene: AIRE HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.45708246C>A (hg19) chr21:g.44288363C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288363C>A , CM000683.2:g.44288363C>A GRCh38
NC_000021.8:g.45708246C>A , CM000683.1:g.45708246C>A GRCh37
NC_000021.7:g.44532674C>A NCBI36
NG_009556.1:g.7484C>A , LRG_18:g.7484C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.557C>A MANE Select ENSP00000291582.5:p.Ala186Asp
ENST00000291582.5:c.557C>A ENSP00000291582.5:p.Ala186Asp
ENST00000527919.5:n.1101C>A
ENST00000530812.5:n.1109C>A
NM_000383.3:c.557C>A NP_000374.1:p.Ala186Asp
XM_011529551.1:c.557C>A XP_011527853.1:p.Ala186Asp
NM_000383.4:c.557C>A MANE Select NP_000374.1:p.Ala186Asp
Search 100 bp 5'
Search 100 bp 3'