Canonical Allele Identifier: CA410423222
Gene: AIRE HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.45706452C>G (hg19) chr21:g.44286569C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44286569C>G , CM000683.2:g.44286569C>G GRCh38
NC_000021.8:g.45706452C>G , CM000683.1:g.45706452C>G GRCh37
NC_000021.7:g.44530880C>G NCBI36
NG_009556.1:g.5690C>G , LRG_18:g.5690C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.145C>G MANE Select ENSP00000291582.5:p.Leu49Val
ENST00000291582.5:c.145C>G ENSP00000291582.5:p.Leu49Val
ENST00000527919.5:n.306C>G
ENST00000530812.5:n.314C>G
NM_000383.3:c.145C>G NP_000374.1:p.Leu49Val
XM_011529551.1:c.145C>G XP_011527853.1:p.Leu49Val
NM_000383.4:c.145C>G MANE Select NP_000374.1:p.Leu49Val
Search 100 bp 5'
Search 100 bp 3'