Canonical Allele Identifier: CA749680431

Gene: AIRE

Linked Data

• dbSNP Id: rs1212324931
• gnomAD v4: 21-44290857-A-G
• MyVariant Identifiers: chr21:g.45710740A>G (hg19) ; chr21:g.44290857A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44290857A>G , CM000683.2:g.44290857A>G	GRCh38
NC_000021.8:g.45710740A>G , CM000683.1:g.45710740A>G	GRCh37
NC_000021.7:g.44535168A>G	NCBI36
NG_009556.1:g.9978A>G , LRG_18:g.9978A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.880-238A>G MANE Select	ENSP00000291582.5:n.880-238A>G
ENST00000291582.5:c.880-238A>G	ENSP00000291582.5:n.880-238A>G
ENST00000337909.5:n.103A>G
ENST00000397994.8:n.103A>G
ENST00000527919.5:n.1613-241A>G
ENST00000530812.5:n.2630-241A>G
NM_000383.3:c.880-238A>G	NP_000374.1:n.880-238A>G
XM_011529551.1:c.880-241A>G	XP_011527853.1:n.880-241A>G
NM_000383.4:c.880-238A>G MANE Select	NP_000374.1:n.880-238A>G