Canonical Allele Identifier: CA10051715

Gene: AIRE

Linked Data

• ClinVar Variation Id: 550974
• ClinVar RCV Id: RCV000665889
• dbSNP Id: rs138489664
• ExAC: 21:45709686 G / C
• gnomAD v2: 21-45709686-G-C
• gnomAD v3: 21-44289803-G-C
• gnomAD v4: 21-44289803-G-C
• MyVariant Identifiers: chr21:g.45709686G>C (hg19) ; chr21:g.44289803G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44289803G>C , CM000683.2:g.44289803G>C	GRCh38
NC_000021.8:g.45709686G>C , CM000683.1:g.45709686G>C	GRCh37
NC_000021.7:g.44534114G>C	NCBI36
NG_009556.1:g.8924G>C , LRG_18:g.8924G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.798+1G>C MANE Select	ENSP00000291582.5:n.798+1G>C
ENST00000291582.5:c.798+1G>C	ENSP00000291582.5:n.798+1G>C
ENST00000527919.5:n.1531+1G>C
ENST00000530812.5:n.2548+1G>C
NM_000383.3:c.798+1G>C	NP_000374.1:n.798+1G>C
XM_011529551.1:c.798+1G>C	XP_011527853.1:n.798+1G>C
NM_000383.4:c.798+1G>C MANE Select	NP_000374.1:n.798+1G>C