Canonical Allele Identifier: CA10051611

Gene: AIRE

Linked Data

• dbSNP Id: rs374858848
• ExAC: 21:45708196 C / T
• gnomAD v2: 21-45708196-C-T
• gnomAD v3: 21-44288313-C-T
• gnomAD v4: 21-44288313-C-T
• MyVariant Identifiers: chr21:g.45708196C>T (hg19) ; chr21:g.44288313C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44288313C>T , CM000683.2:g.44288313C>T	GRCh38
NC_000021.8:g.45708196C>T , CM000683.1:g.45708196C>T	GRCh37
NC_000021.7:g.44532624C>T	NCBI36
NG_009556.1:g.7434C>T , LRG_18:g.7434C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.539-32C>T MANE Select	ENSP00000291582.5:n.539-32C>T
ENST00000291582.5:c.539-32C>T	ENSP00000291582.5:n.539-32C>T
ENST00000527919.5:n.1083-32C>T
ENST00000530812.5:n.1091-32C>T
NM_000383.3:c.539-32C>T	NP_000374.1:n.539-32C>T
XM_011529551.1:c.539-32C>T	XP_011527853.1:n.539-32C>T
NM_000383.4:c.539-32C>T MANE Select	NP_000374.1:n.539-32C>T