Canonical Allele Identifier: CA2654796135

Gene: AIRE

Linked Data

• gnomAD v4: 21-44296266-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44296266A>G , CM000683.2:g.44296266A>G	GRCh38
NC_000021.8:g.45716149A>G , CM000683.1:g.45716149A>G	GRCh37
NC_000021.7:g.44540577A>G	NCBI36
NG_009556.1:g.15387A>G , LRG_18:g.15387A>G
NG_034033.1:g.1233A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.1504-117A>G MANE Select	ENSP00000291582.5:n.1504-117A>G
ENST00000291582.5:c.1504-117A>G	ENSP00000291582.5:n.1504-117A>G
ENST00000337909.5:n.965-117A>G
ENST00000397994.8:n.883-117A>G
ENST00000527919.5:n.2263-117A>G
ENST00000530812.5:n.3251-117A>G
NM_000383.3:c.1504-117A>G	NP_000374.1:n.1504-117A>G
XM_011529551.1:c.1501-117A>G	XP_011527853.1:n.1501-117A>G
NM_000383.4:c.1504-117A>G MANE Select	NP_000374.1:n.1504-117A>G