Canonical Allele Identifier: CA10052186
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1595226
ClinVar RCV Id: RCV002109465
dbSNP Id: rs200735043
ExAC: 21:45716339 C / A
gnomAD v2: 21-45716339-C-A
gnomAD v3: 21-44296456-C-A
gnomAD v4: 21-44296456-C-A
MyVariant Identifiers: chr21:g.45716339C>A (hg19) chr21:g.44296456C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44296456C>A , CM000683.2:g.44296456C>A GRCh38
NC_000021.8:g.45716339C>A , CM000683.1:g.45716339C>A GRCh37
NC_000021.7:g.44540767C>A NCBI36
NG_009556.1:g.15577C>A , LRG_18:g.15577C>A
NG_034033.1:g.1423C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.1566+11C>A MANE Select ENSP00000291582.5:n.1566+11C>A
ENST00000291582.5:c.1566+11C>A ENSP00000291582.5:n.1566+11C>A
ENST00000337909.5:n.1027+11C>A
ENST00000397994.8:n.945+11C>A
ENST00000527919.5:n.2325+11C>A
ENST00000530812.5:n.3313+11C>A
NM_000383.3:c.1566+11C>A NP_000374.1:n.1566+11C>A
XM_011529551.1:c.1563+11C>A XP_011527853.1:n.1563+11C>A
NM_000383.4:c.1566+11C>A MANE Select NP_000374.1:n.1566+11C>A
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