Canonical Allele Identifier: CA10051910

Gene: AIRE

Linked Data

• ClinVar Variation Id: 285876
• ClinVar RCV Id: RCV000361358 ; RCV001060623 ; RCV001532961 ; RCV003957448
• dbSNP Id: rs376901046
• ExAC: 21:45712255 C / T
• gnomAD v2: 21-45712255-C-T
• gnomAD v3: 21-44292372-C-T
• gnomAD v4: 21-44292372-C-T
• MyVariant Identifiers: chr21:g.45712255C>T (hg19) ; chr21:g.44292372C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44292372C>T , CM000683.2:g.44292372C>T	GRCh38
NC_000021.8:g.45712255C>T , CM000683.1:g.45712255C>T	GRCh37
NC_000021.7:g.44536683C>T	NCBI36
NG_009556.1:g.11493C>T , LRG_18:g.11493C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.1066C>T MANE Select	ENSP00000291582.5:p.Arg356Trp
ENST00000291582.5:c.1066C>T	ENSP00000291582.5:p.Arg356Trp
ENST00000337909.5:n.527C>T
ENST00000397994.8:n.527C>T
ENST00000527919.5:n.1796C>T
ENST00000530812.5:n.2813C>T
NM_000383.3:c.1066C>T	NP_000374.1:p.Arg356Trp
XM_011529551.1:c.1063C>T	XP_011527853.1:p.Arg355Trp
NM_000383.4:c.1066C>T MANE Select	NP_000374.1:p.Arg356Trp