Canonical Allele Identifier: CA410426016

Gene: AIRE

Linked Data

• gnomAD v4: 21-44294490-C-A
• MyVariant Identifiers: chr21:g.45714373C>A (hg19) ; chr21:g.44294490C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44294490C>A , CM000683.2:g.44294490C>A	GRCh38
NC_000021.8:g.45714373C>A , CM000683.1:g.45714373C>A	GRCh37
NC_000021.7:g.44538801C>A	NCBI36
NG_009556.1:g.13611C>A , LRG_18:g.13611C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000291582.6:c.1490C>A MANE Select	ENSP00000291582.5:p.Pro497His
ENST00000291582.5:c.1490C>A	ENSP00000291582.5:p.Pro497His
ENST00000337909.5:n.951C>A
ENST00000397994.8:n.869C>A
ENST00000527919.5:n.2249C>A
ENST00000530812.5:n.3237C>A
NM_000383.3:c.1490C>A	NP_000374.1:p.Pro497His
XM_011529551.1:c.1487C>A	XP_011527853.1:p.Pro496His
NM_000383.4:c.1490C>A MANE Select	NP_000374.1:p.Pro497His