Canonical Allele Identifier: CA410424602

Gene: AIRE

Linked Data

• gnomAD v4: 21-44289804-T-G
• MyVariant Identifiers: chr21:g.45709687T>G (hg19) ; chr21:g.44289804T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44289804T>G , CM000683.2:g.44289804T>G	GRCh38
NC_000021.8:g.45709687T>G , CM000683.1:g.45709687T>G	GRCh37
NC_000021.7:g.44534115T>G	NCBI36
NG_009556.1:g.8925T>G , LRG_18:g.8925T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.798+2T>G MANE Select	ENSP00000291582.5:n.798+2T>G
ENST00000291582.5:c.798+2T>G	ENSP00000291582.5:n.798+2T>G
ENST00000527919.5:n.1531+2T>G
ENST00000530812.5:n.2548+2T>G
NM_000383.3:c.798+2T>G	NP_000374.1:n.798+2T>G
XM_011529551.1:c.798+2T>G	XP_011527853.1:n.798+2T>G
NM_000383.4:c.798+2T>G MANE Select	NP_000374.1:n.798+2T>G