Canonical Allele Identifier: CA657670663
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44287470-C-A
COSMIC: COSN9160089 COSN15388815
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287470C>A , CM000683.2:g.44287470C>A GRCh38
NC_000021.8:g.45707353C>A , CM000683.1:g.45707353C>A GRCh37
NC_000021.7:g.44531781C>A NCBI36
NG_009556.1:g.6591C>A , LRG_18:g.6591C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.464-47C>A MANE Select ENSP00000291582.5:n.464-47C>A
ENST00000291582.5:c.464-47C>A ENSP00000291582.5:n.464-47C>A
ENST00000527919.5:n.961C>A
ENST00000530812.5:n.969C>A
NM_000383.3:c.464-47C>A NP_000374.1:n.464-47C>A
XM_011529551.1:c.464-47C>A XP_011527853.1:n.464-47C>A
NM_000383.4:c.464-47C>A MANE Select NP_000374.1:n.464-47C>A
Search 100 bp 5'
Search 100 bp 3'