Canonical Allele Identifier: CA410424745
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 2815515
ClinVar RCV Id: RCV003637133
MyVariant Identifiers: chr21:g.45709940C>T (hg19) chr21:g.44290057C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290057C>T , CM000683.2:g.44290057C>T GRCh38
NC_000021.8:g.45709940C>T , CM000683.1:g.45709940C>T GRCh37
NC_000021.7:g.44534368C>T NCBI36
NG_009556.1:g.9178C>T , LRG_18:g.9178C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.868C>T MANE Select ENSP00000291582.5:p.Gln290Ter
ENST00000291582.5:c.868C>T ENSP00000291582.5:p.Gln290Ter
ENST00000527919.5:n.1601C>T
ENST00000530812.5:n.2618C>T
NM_000383.3:c.868C>T NP_000374.1:p.Gln290Ter
XM_011529551.1:c.868C>T XP_011527853.1:p.Gln290Ter
NM_000383.4:c.868C>T MANE Select NP_000374.1:p.Gln290Ter
Search 100 bp 5'
Search 100 bp 3'