Canonical Allele Identifier: CA638115947

Gene: AIRE

Linked Data

• dbSNP Id: rs1284361510
• gnomAD v2: 21-45710780-G-A
• gnomAD v4: 21-44290897-G-A
• MyVariant Identifiers: chr21:g.45710780G>A (hg19) ; chr21:g.44290897G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44290897G>A , CM000683.2:g.44290897G>A	GRCh38
NC_000021.8:g.45710780G>A , CM000683.1:g.45710780G>A	GRCh37
NC_000021.7:g.44535208G>A	NCBI36
NG_009556.1:g.10018G>A , LRG_18:g.10018G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.880-198G>A MANE Select	ENSP00000291582.5:n.880-198G>A
ENST00000291582.5:c.880-198G>A	ENSP00000291582.5:n.880-198G>A
ENST00000337909.5:n.143G>A
ENST00000397994.8:n.143G>A
ENST00000527919.5:n.1613-201G>A
ENST00000530812.5:n.2630-201G>A
NM_000383.3:c.880-198G>A	NP_000374.1:n.880-198G>A
XM_011529551.1:c.880-201G>A	XP_011527853.1:n.880-201G>A
NM_000383.4:c.880-198G>A MANE Select	NP_000374.1:n.880-198G>A