Canonical Allele Identifier: CA10052184

Gene: AIRE

Linked Data

• ClinVar Variation Id: 446817
• ClinVar RCV Id: RCV000516652 ; RCV000633447 ; RCV001702498
• dbSNP Id: rs72650680
• ExAC: 21:45716336 C / T
• gnomAD v2: 21-45716336-C-T
• gnomAD v3: 21-44296453-C-T
• gnomAD v4: 21-44296453-C-T
• MyVariant Identifiers: chr21:g.45716336C>T (hg19) ; chr21:g.44296453C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44296453C>T , CM000683.2:g.44296453C>T	GRCh38
NC_000021.8:g.45716336C>T , CM000683.1:g.45716336C>T	GRCh37
NC_000021.7:g.44540764C>T	NCBI36
NG_009556.1:g.15574C>T , LRG_18:g.15574C>T
NG_034033.1:g.1420C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000291582.6:c.1566+8C>T MANE Select	ENSP00000291582.5:n.1566+8C>T
ENST00000291582.5:c.1566+8C>T	ENSP00000291582.5:n.1566+8C>T
ENST00000337909.5:n.1027+8C>T
ENST00000397994.8:n.945+8C>T
ENST00000527919.5:n.2325+8C>T
ENST00000530812.5:n.3313+8C>T
NM_000383.3:c.1566+8C>T	NP_000374.1:n.1566+8C>T
XM_011529551.1:c.1563+8C>T	XP_011527853.1:n.1563+8C>T
NM_000383.4:c.1566+8C>T MANE Select	NP_000374.1:n.1566+8C>T