Canonical Allele Identifier: CA14887686
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1262941
ClinVar RCV Id: RCV001670174
dbSNP Id: rs1003854
gnomAD v2: 21-45710107-T-C
gnomAD v3: 21-44290224-T-C
gnomAD v4: 21-44290224-T-C
MyVariant Identifiers: chr21:g.45710107T>C (hg19) chr21:g.44290224T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290224T>C , CM000683.2:g.44290224T>C GRCh38
NC_000021.8:g.45710107T>C , CM000683.1:g.45710107T>C GRCh37
NC_000021.7:g.44534535T>C NCBI36
NG_009556.1:g.9345T>C , LRG_18:g.9345T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.879+156T>C MANE Select ENSP00000291582.5:n.879+156T>C
ENST00000291582.5:c.879+156T>C ENSP00000291582.5:n.879+156T>C
ENST00000527919.5:n.1612+156T>C
ENST00000530812.5:n.2629+156T>C
NM_000383.3:c.879+156T>C NP_000374.1:n.879+156T>C
XM_011529551.1:c.879+156T>C XP_011527853.1:n.879+156T>C
NM_000383.4:c.879+156T>C MANE Select NP_000374.1:n.879+156T>C
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