Canonical Allele Identifier: CA10051918

Gene: AIRE

Linked Data

• ClinVar Variation Id: 1396685
• ClinVar RCV Id: RCV001903120
• dbSNP Id: rs750688330
• ExAC: 21:45712284 G / A
• gnomAD v2: 21-45712284-G-A
• gnomAD v3: 21-44292401-G-A
• gnomAD v4: 21-44292401-G-A
• MyVariant Identifiers: chr21:g.45712284G>A (hg19) ; chr21:g.44292401G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44292401G>A , CM000683.2:g.44292401G>A	GRCh38
NC_000021.8:g.45712284G>A , CM000683.1:g.45712284G>A	GRCh37
NC_000021.7:g.44536712G>A	NCBI36
NG_009556.1:g.11522G>A , LRG_18:g.11522G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000291582.6:c.1095G>A MANE Select	ENSP00000291582.5:p.Pro365=
ENST00000291582.5:c.1095G>A	ENSP00000291582.5:p.Pro365=
ENST00000337909.5:n.556G>A
ENST00000397994.8:n.556G>A
ENST00000527919.5:n.1825G>A
ENST00000530812.5:n.2842G>A
NM_000383.3:c.1095G>A	NP_000374.1:p.Pro365=
XM_011529551.1:c.1092G>A	XP_011527853.1:p.Pro364=
NM_000383.4:c.1095G>A MANE Select	NP_000374.1:p.Pro365=