Canonical Allele Identifier: CA2391568200
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1988424
ClinVar RCV Id: RCV002790439
dbSNP Id: rs2040551419
gnomAD v4: 21-44292405-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44292405T>G , CM000683.2:g.44292405T>G GRCh38
NC_000021.8:g.45712288T>G , CM000683.1:g.45712288T>G GRCh37
NC_000021.7:g.44536716T>G NCBI36
NG_009556.1:g.11526T>G , LRG_18:g.11526T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.1095+4T>G MANE Select ENSP00000291582.5:n.1095+4T>G
ENST00000291582.5:c.1095+4T>G ENSP00000291582.5:n.1095+4T>G
ENST00000337909.5:n.556+4T>G
ENST00000397994.8:n.556+4T>G
ENST00000527919.5:n.1825+4T>G
ENST00000530812.5:n.2842+4T>G
NM_000383.3:c.1095+4T>G NP_000374.1:n.1095+4T>G
XM_011529551.1:c.1092+4T>G XP_011527853.1:n.1092+4T>G
NM_000383.4:c.1095+4T>G MANE Select NP_000374.1:n.1095+4T>G
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