Canonical Allele Identifier: CA410423428
Gene: AIRE HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.45706551T>G (hg19) chr21:g.44286668T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44286668T>G , CM000683.2:g.44286668T>G GRCh38
NC_000021.8:g.45706551T>G , CM000683.1:g.45706551T>G GRCh37
NC_000021.7:g.44530979T>G NCBI36
NG_009556.1:g.5789T>G , LRG_18:g.5789T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.244T>G MANE Select ENSP00000291582.5:p.Phe82Val
ENST00000291582.5:c.244T>G ENSP00000291582.5:p.Phe82Val
ENST00000527919.5:n.405T>G
ENST00000530812.5:n.413T>G
NM_000383.3:c.244T>G NP_000374.1:p.Phe82Val
XM_011529551.1:c.244T>G XP_011527853.1:p.Phe82Val
NM_000383.4:c.244T>G MANE Select NP_000374.1:p.Phe82Val
Search 100 bp 5'
Search 100 bp 3'