Canonical Allele Identifier: CA2739741906

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44290859A>G , CM000683.2:g.44290859A>G	GRCh38
NC_000021.8:g.45710742A>G , CM000683.1:g.45710742A>G	GRCh37
NC_000021.7:g.44535170A>G	NCBI36
NG_009556.1:g.9980A>G , LRG_18:g.9980A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.880-236A>G MANE Select	ENSP00000291582.5:n.880-236A>G
ENST00000291582.5:c.880-236A>G	ENSP00000291582.5:n.880-236A>G
ENST00000337909.5:n.105A>G
ENST00000397994.8:n.105A>G
ENST00000527919.5:n.1613-239A>G
ENST00000530812.5:n.2630-239A>G
NM_000383.3:c.880-236A>G	NP_000374.1:n.880-236A>G
XM_011529551.1:c.880-239A>G	XP_011527853.1:n.880-239A>G
NM_000383.4:c.880-236A>G MANE Select	NP_000374.1:n.880-236A>G