Canonical Allele Identifier: CA2818038127

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44296260G>A , CM000683.2:g.44296260G>A	GRCh38
NC_000021.8:g.45716143G>A , CM000683.1:g.45716143G>A	GRCh37
NC_000021.7:g.44540571G>A	NCBI36
NG_009556.1:g.15381G>A , LRG_18:g.15381G>A
NG_034033.1:g.1227G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.1504-123G>A MANE Select	ENSP00000291582.5:n.1504-123G>A
ENST00000291582.5:c.1504-123G>A	ENSP00000291582.5:n.1504-123G>A
ENST00000337909.5:n.965-123G>A
ENST00000397994.8:n.883-123G>A
ENST00000527919.5:n.2263-123G>A
ENST00000530812.5:n.3251-123G>A
NM_000383.3:c.1504-123G>A	NP_000374.1:n.1504-123G>A
XM_011529551.1:c.1501-123G>A	XP_011527853.1:n.1501-123G>A
NM_000383.4:c.1504-123G>A MANE Select	NP_000374.1:n.1504-123G>A