Canonical Allele Identifier: CA410424380

Gene: AIRE

Linked Data

• MyVariant Identifiers: chr21:g.45709579A>G (hg19) ; chr21:g.44289696A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44289696A>G , CM000683.2:g.44289696A>G	GRCh38
NC_000021.8:g.45709579A>G , CM000683.1:g.45709579A>G	GRCh37
NC_000021.7:g.44534007A>G	NCBI36
NG_009556.1:g.8817A>G , LRG_18:g.8817A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.692A>G MANE Select	ENSP00000291582.5:p.Tyr231Cys
ENST00000291582.5:c.692A>G	ENSP00000291582.5:p.Tyr231Cys
ENST00000527919.5:n.1425A>G
ENST00000530812.5:n.2442A>G
NM_000383.3:c.692A>G	NP_000374.1:p.Tyr231Cys
XM_011529551.1:c.692A>G	XP_011527853.1:p.Tyr231Cys
NM_000383.4:c.692A>G MANE Select	NP_000374.1:p.Tyr231Cys