Canonical Allele Identifier: CA10051567

Gene: AIRE

Linked Data

• dbSNP Id: rs371165781
• ExAC: 21:45707037 G / A
• gnomAD v2: 21-45707037-G-A
• gnomAD v3: 21-44287154-G-A
• gnomAD v4: 21-44287154-G-A
• MyVariant Identifiers: chr21:g.45707037G>A (hg19) ; chr21:g.44287154G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44287154G>A , CM000683.2:g.44287154G>A	GRCh38
NC_000021.8:g.45707037G>A , CM000683.1:g.45707037G>A	GRCh37
NC_000021.7:g.44531465G>A	NCBI36
NG_009556.1:g.6275G>A , LRG_18:g.6275G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.463+21G>A MANE Select	ENSP00000291582.5:n.463+21G>A
ENST00000291582.5:c.463+21G>A	ENSP00000291582.5:n.463+21G>A
ENST00000527919.5:n.645G>A
ENST00000530812.5:n.653G>A
NM_000383.3:c.463+21G>A	NP_000374.1:n.463+21G>A
XM_011529551.1:c.463+21G>A	XP_011527853.1:n.463+21G>A
NM_000383.4:c.463+21G>A MANE Select	NP_000374.1:n.463+21G>A