Canonical Allele Identifier: CA321794541

Gene: AIRE

Linked Data

• dbSNP Id: rs532437690
• gnomAD v2: 21-45712100-A-G
• gnomAD v3: 21-44292217-A-G
• gnomAD v4: 21-44292217-A-G
• MyVariant Identifiers: chr21:g.45712100A>G (hg19) ; chr21:g.44292217A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44292217A>G , CM000683.2:g.44292217A>G	GRCh38
NC_000021.8:g.45712100A>G , CM000683.1:g.45712100A>G	GRCh37
NC_000021.7:g.44536528A>G	NCBI36
NG_009556.1:g.11338A>G , LRG_18:g.11338A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000291582.6:c.996-85A>G MANE Select	ENSP00000291582.5:n.996-85A>G
ENST00000291582.5:c.996-85A>G	ENSP00000291582.5:n.996-85A>G
ENST00000337909.5:n.457-85A>G
ENST00000397994.8:n.457-85A>G
ENST00000527919.5:n.1726-85A>G
ENST00000530812.5:n.2743-85A>G
NM_000383.3:c.996-85A>G	NP_000374.1:n.996-85A>G
XM_011529551.1:c.993-85A>G	XP_011527853.1:n.993-85A>G
NM_000383.4:c.996-85A>G MANE Select	NP_000374.1:n.996-85A>G