Canonical Allele Identifier: CA410424660
Gene: AIRE HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.45709896A>C (hg19) chr21:g.44290013A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290013A>C , CM000683.2:g.44290013A>C GRCh38
NC_000021.8:g.45709896A>C , CM000683.1:g.45709896A>C GRCh37
NC_000021.7:g.44534324A>C NCBI36
NG_009556.1:g.9134A>C , LRG_18:g.9134A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.824A>C MANE Select ENSP00000291582.5:p.Gln275Pro
ENST00000291582.5:c.824A>C ENSP00000291582.5:p.Gln275Pro
ENST00000527919.5:n.1557A>C
ENST00000530812.5:n.2574A>C
NM_000383.3:c.824A>C NP_000374.1:p.Gln275Pro
XM_011529551.1:c.824A>C XP_011527853.1:p.Gln275Pro
NM_000383.4:c.824A>C MANE Select NP_000374.1:p.Gln275Pro
Search 100 bp 5'
Search 100 bp 3'