Canonical Allele Identifier: CA2654789376
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44287475-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287475A>C , CM000683.2:g.44287475A>C GRCh38
NC_000021.8:g.45707358A>C , CM000683.1:g.45707358A>C GRCh37
NC_000021.7:g.44531786A>C NCBI36
NG_009556.1:g.6596A>C , LRG_18:g.6596A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.464-42A>C MANE Select ENSP00000291582.5:n.464-42A>C
ENST00000291582.5:c.464-42A>C ENSP00000291582.5:n.464-42A>C
ENST00000527919.5:n.966A>C
ENST00000530812.5:n.974A>C
NM_000383.3:c.464-42A>C NP_000374.1:n.464-42A>C
XM_011529551.1:c.464-42A>C XP_011527853.1:n.464-42A>C
NM_000383.4:c.464-42A>C MANE Select NP_000374.1:n.464-42A>C
Search 100 bp 5'
Search 100 bp 3'