Canonical Allele Identifier: CA10051757
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 2978024
ClinVar RCV Id: RCV003836686
dbSNP Id: rs760555624
ExAC: 21:45709959 C / A
gnomAD v2: 21-45709959-C-A
gnomAD v4: 21-44290076-C-A
MyVariant Identifiers: chr21:g.45709959C>A (hg19) chr21:g.44290076C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290076C>A , CM000683.2:g.44290076C>A GRCh38
NC_000021.8:g.45709959C>A , CM000683.1:g.45709959C>A GRCh37
NC_000021.7:g.44534387C>A NCBI36
NG_009556.1:g.9197C>A , LRG_18:g.9197C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.879+8C>A MANE Select ENSP00000291582.5:n.879+8C>A
ENST00000291582.5:c.879+8C>A ENSP00000291582.5:n.879+8C>A
ENST00000527919.5:n.1612+8C>A
ENST00000530812.5:n.2629+8C>A
NM_000383.3:c.879+8C>A NP_000374.1:n.879+8C>A
XM_011529551.1:c.879+8C>A XP_011527853.1:n.879+8C>A
NM_000383.4:c.879+8C>A MANE Select NP_000374.1:n.879+8C>A
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