Canonical Allele Identifier: CA10052035
Gene: AIRE HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.44293770G>A
GRCh37 chr21:g.45713653G>A
gnomAD v2:
21:45713653 G / A
gnomAD v3:
21:44293770 G / A
gnomAD v4:
chr21-44293770-G-A
Joint Max Group AF 0.00036631 (NFE)
Genomes Max Group AF 0.00054709 (NFE)
Exomes Max Group AF 0.00034642 (NFE)
ClinVar RCV:
RCV002179728
ClinVar Variation:
1542451
dbSNP:
369136366
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44293770G>A , CM000683.2:g.44293770G>A GRCh38
NC_000021.8:g.45713653G>A , CM000683.1:g.45713653G>A GRCh37
NC_000021.7:g.44538081G>A NCBI36
NG_009556.1:g.12891G>A , LRG_18:g.12891G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.1279-19G>A MANE Select ENSP00000291582.5:n.1279-19G>A
ENST00000291582.5:c.1279-19G>A ENSP00000291582.5:n.1279-19G>A
ENST00000337909.5:n.740-19G>A
ENST00000397994.8:n.658-19G>A
ENST00000527919.5:n.2009-19G>A
ENST00000530812.5:n.3026-19G>A
NM_000383.3:c.1279-19G>A NP_000374.1:n.1279-19G>A
XM_011529551.1:c.1276-19G>A XP_011527853.1:n.1276-19G>A
NM_000383.4:c.1279-19G>A MANE Select NP_000374.1:n.1279-19G>A
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