Canonical Allele Identifier: CA410423209
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44286563-C-T
MyVariant Identifiers: chr21:g.45706446C>T (hg19) chr21:g.44286563C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44286563C>T , CM000683.2:g.44286563C>T GRCh38
NC_000021.8:g.45706446C>T , CM000683.1:g.45706446C>T GRCh37
NC_000021.7:g.44530874C>T NCBI36
NG_009556.1:g.5684C>T , LRG_18:g.5684C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.139C>T MANE Select ENSP00000291582.5:p.Leu47Phe
ENST00000291582.5:c.139C>T ENSP00000291582.5:p.Leu47Phe
ENST00000527919.5:n.300C>T
ENST00000530812.5:n.308C>T
NM_000383.3:c.139C>T NP_000374.1:p.Leu47Phe
XM_011529551.1:c.139C>T XP_011527853.1:p.Leu47Phe
NM_000383.4:c.139C>T MANE Select NP_000374.1:p.Leu47Phe
Search 100 bp 5'
Search 100 bp 3'