Canonical Allele Identifier: CA512490962
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1559477
ClinVar RCV Id: RCV002202877
dbSNP Id: rs2146379208
MyVariant Identifiers: chr21:g.45709586C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289703C>T , CM000683.2:g.44289703C>T GRCh38
NC_000021.8:g.45709586C>T , CM000683.1:g.45709586C>T GRCh37
NC_000021.7:g.44534014C>T NCBI36
NG_009556.1:g.8824C>T , LRG_18:g.8824C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.699C>T MANE Select ENSP00000291582.5:p.Pro233=
ENST00000291582.5:c.699C>T ENSP00000291582.5:p.Pro233=
ENST00000527919.5:n.1432C>T
ENST00000530812.5:n.2449C>T
NM_000383.3:c.699C>T NP_000374.1:p.Pro233=
XM_011529551.1:c.699C>T XP_011527853.1:p.Pro233=
NM_000383.4:c.699C>T MANE Select NP_000374.1:p.Pro233=
Search 100 bp 5'
Search 100 bp 3'