Canonical Allele Identifier: CA2573157682
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1360317
ClinVar RCV Id: RCV001904829
dbSNP Id: rs2146376456
gnomAD v4: 21-44287139-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287139C>G , CM000683.2:g.44287139C>G GRCh38
NC_000021.8:g.45707022C>G , CM000683.1:g.45707022C>G GRCh37
NC_000021.7:g.44531450C>G NCBI36
NG_009556.1:g.6260C>G , LRG_18:g.6260C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.463+6C>G MANE Select ENSP00000291582.5:n.463+6C>G
ENST00000291582.5:c.463+6C>G ENSP00000291582.5:n.463+6C>G
ENST00000527919.5:n.630C>G
ENST00000530812.5:n.638C>G
NM_000383.3:c.463+6C>G NP_000374.1:n.463+6C>G
XM_011529551.1:c.463+6C>G XP_011527853.1:n.463+6C>G
NM_000383.4:c.463+6C>G MANE Select NP_000374.1:n.463+6C>G
Search 100 bp 5'
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