Canonical Allele Identifier: CA410424247

Gene: AIRE

Linked Data

• COSMIC: COSM6444417
• MyVariant Identifiers: chr21:g.45708323C>T (hg19) ; chr21:g.44288440C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44288440C>T , CM000683.2:g.44288440C>T	GRCh38
NC_000021.8:g.45708323C>T , CM000683.1:g.45708323C>T	GRCh37
NC_000021.7:g.44532751C>T	NCBI36
NG_009556.1:g.7561C>T , LRG_18:g.7561C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.634C>T MANE Select	ENSP00000291582.5:p.Gln212Ter
ENST00000291582.5:c.634C>T	ENSP00000291582.5:p.Gln212Ter
ENST00000527919.5:n.1178C>T
ENST00000530812.5:n.1186C>T
NM_000383.3:c.634C>T	NP_000374.1:p.Gln212Ter
XM_011529551.1:c.634C>T	XP_011527853.1:p.Gln212Ter
NM_000383.4:c.634C>T MANE Select	NP_000374.1:p.Gln212Ter