Canonical Allele Identifier: CA321788170

Gene: AIRE

Linked Data

• dbSNP Id: rs560125637
• gnomAD v2: 21-45708099-C-G
• gnomAD v3: 21-44288216-C-G
• gnomAD v4: 21-44288216-C-G
• MyVariant Identifiers: chr21:g.45708099C>G (hg19) ; chr21:g.44288216C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44288216C>G , CM000683.2:g.44288216C>G	GRCh38
NC_000021.8:g.45708099C>G , CM000683.1:g.45708099C>G	GRCh37
NC_000021.7:g.44532527C>G	NCBI36
NG_009556.1:g.7337C>G , LRG_18:g.7337C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.539-129C>G MANE Select	ENSP00000291582.5:n.539-129C>G
ENST00000291582.5:c.539-129C>G	ENSP00000291582.5:n.539-129C>G
ENST00000527919.5:n.1083-129C>G
ENST00000530812.5:n.1091-129C>G
NM_000383.3:c.539-129C>G	NP_000374.1:n.539-129C>G
XM_011529551.1:c.539-129C>G	XP_011527853.1:n.539-129C>G
NM_000383.4:c.539-129C>G MANE Select	NP_000374.1:n.539-129C>G