Canonical Allele Identifier: CA749680396

Gene: AIRE

Linked Data

• dbSNP Id: rs1331189697
• gnomAD v3: 21-44290806-C-G
• gnomAD v4: 21-44290806-C-G
• MyVariant Identifiers: chr21:g.45710689C>G (hg19) ; chr21:g.44290806C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44290806C>G , CM000683.2:g.44290806C>G	GRCh38
NC_000021.8:g.45710689C>G , CM000683.1:g.45710689C>G	GRCh37
NC_000021.7:g.44535117C>G	NCBI36
NG_009556.1:g.9927C>G , LRG_18:g.9927C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.880-289C>G MANE Select	ENSP00000291582.5:n.880-289C>G
ENST00000291582.5:c.880-289C>G	ENSP00000291582.5:n.880-289C>G
ENST00000337909.5:n.52C>G
ENST00000397994.8:n.52C>G
ENST00000527919.5:n.1613-292C>G
ENST00000530812.5:n.2630-292C>G
NM_000383.3:c.880-289C>G	NP_000374.1:n.880-289C>G
XM_011529551.1:c.880-292C>G	XP_011527853.1:n.880-292C>G
NM_000383.4:c.880-289C>G MANE Select	NP_000374.1:n.880-289C>G