Canonical Allele Identifier: CA2654790253

Gene: AIRE

Linked Data

• gnomAD v4: 21-44288833-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44288833A>G , CM000683.2:g.44288833A>G	GRCh38
NC_000021.8:g.45708716A>G , CM000683.1:g.45708716A>G	GRCh37
NC_000021.7:g.44533144A>G	NCBI36
NG_009556.1:g.7954A>G , LRG_18:g.7954A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.652+375A>G MANE Select	ENSP00000291582.5:n.652+375A>G
ENST00000291582.5:c.652+375A>G	ENSP00000291582.5:n.652+375A>G
ENST00000527919.5:n.1196+375A>G
ENST00000530812.5:n.1579A>G
NM_000383.3:c.652+375A>G	NP_000374.1:n.652+375A>G
XM_011529551.1:c.652+375A>G	XP_011527853.1:n.652+375A>G
NM_000383.4:c.652+375A>G MANE Select	NP_000374.1:n.652+375A>G