Canonical Allele Identifier: CA410426006

Gene: AIRE

Linked Data

• gnomAD v4: 21-44294486-G-C
• MyVariant Identifiers: chr21:g.45714369G>C (hg19) ; chr21:g.44294486G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44294486G>C , CM000683.2:g.44294486G>C	GRCh38
NC_000021.8:g.45714369G>C , CM000683.1:g.45714369G>C	GRCh37
NC_000021.7:g.44538797G>C	NCBI36
NG_009556.1:g.13607G>C , LRG_18:g.13607G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000291582.6:c.1486G>C MANE Select	ENSP00000291582.5:p.Ala496Pro
ENST00000291582.5:c.1486G>C	ENSP00000291582.5:p.Ala496Pro
ENST00000337909.5:n.947G>C
ENST00000397994.8:n.865G>C
ENST00000527919.5:n.2245G>C
ENST00000530812.5:n.3233G>C
NM_000383.3:c.1486G>C	NP_000374.1:p.Ala496Pro
XM_011529551.1:c.1483G>C	XP_011527853.1:p.Ala495Pro
NM_000383.4:c.1486G>C MANE Select	NP_000374.1:p.Ala496Pro