Canonical Allele Identifier: CA410424591
Gene: AIRE HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.45709680G>C (hg19) chr21:g.44289797G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289797G>C , CM000683.2:g.44289797G>C GRCh38
NC_000021.8:g.45709680G>C , CM000683.1:g.45709680G>C GRCh37
NC_000021.7:g.44534108G>C NCBI36
NG_009556.1:g.8918G>C , LRG_18:g.8918G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.793G>C MANE Select ENSP00000291582.5:p.Ala265Pro
ENST00000291582.5:c.793G>C ENSP00000291582.5:p.Ala265Pro
ENST00000527919.5:n.1526G>C
ENST00000530812.5:n.2543G>C
NM_000383.3:c.793G>C NP_000374.1:p.Ala265Pro
XM_011529551.1:c.793G>C XP_011527853.1:p.Ala265Pro
NM_000383.4:c.793G>C MANE Select NP_000374.1:p.Ala265Pro
Search 100 bp 5'
Search 100 bp 3'