Canonical Allele Identifier: CA638115896

Gene: AIRE

Linked Data

• dbSNP Id: rs1246534432
• gnomAD v2: 21-45709821-A-G
• gnomAD v3: 21-44289938-A-G
• gnomAD v4: 21-44289938-A-G
• MyVariant Identifiers: chr21:g.45709821A>G (hg19) ; chr21:g.44289938A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44289938A>G , CM000683.2:g.44289938A>G	GRCh38
NC_000021.8:g.45709821A>G , CM000683.1:g.45709821A>G	GRCh37
NC_000021.7:g.44534249A>G	NCBI36
NG_009556.1:g.9059A>G , LRG_18:g.9059A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.799-50A>G MANE Select	ENSP00000291582.5:n.799-50A>G
ENST00000291582.5:c.799-50A>G	ENSP00000291582.5:n.799-50A>G
ENST00000527919.5:n.1532-50A>G
ENST00000530812.5:n.2549-50A>G
NM_000383.3:c.799-50A>G	NP_000374.1:n.799-50A>G
XM_011529551.1:c.799-50A>G	XP_011527853.1:n.799-50A>G
NM_000383.4:c.799-50A>G MANE Select	NP_000374.1:n.799-50A>G