Canonical Allele Identifier: CA410424378
Gene: AIRE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289695T>C , CM000683.2:g.44289695T>C GRCh38
NC_000021.8:g.45709578T>C , CM000683.1:g.45709578T>C GRCh37
NC_000021.7:g.44534006T>C NCBI36
NG_009556.1:g.8816T>C , LRG_18:g.8816T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.691T>C MANE Select ENSP00000291582.5:p.Tyr231His
ENST00000291582.5:c.691T>C ENSP00000291582.5:p.Tyr231His
ENST00000527919.5:n.1424T>C
ENST00000530812.5:n.2441T>C
NM_000383.3:c.691T>C NP_000374.1:p.Tyr231His
XM_011529551.1:c.691T>C XP_011527853.1:p.Tyr231His
NM_000383.4:c.691T>C MANE Select NP_000374.1:p.Tyr231His