Canonical Allele Identifier: CA2654793655

Gene: AIRE

Linked Data

• gnomAD v4: 21-44290804-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44290804T>G , CM000683.2:g.44290804T>G	GRCh38
NC_000021.8:g.45710687T>G , CM000683.1:g.45710687T>G	GRCh37
NC_000021.7:g.44535115T>G	NCBI36
NG_009556.1:g.9925T>G , LRG_18:g.9925T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.880-291T>G MANE Select	ENSP00000291582.5:n.880-291T>G
ENST00000291582.5:c.880-291T>G	ENSP00000291582.5:n.880-291T>G
ENST00000337909.5:n.50T>G
ENST00000397994.8:n.50T>G
ENST00000527919.5:n.1613-294T>G
ENST00000530812.5:n.2630-294T>G
NM_000383.3:c.880-291T>G	NP_000374.1:n.880-291T>G
XM_011529551.1:c.880-294T>G	XP_011527853.1:n.880-294T>G
NM_000383.4:c.880-291T>G MANE Select	NP_000374.1:n.880-291T>G