Canonical Allele Identifier: CA410424476
Gene: AIRE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289738A>T , CM000683.2:g.44289738A>T GRCh38
NC_000021.8:g.45709621A>T , CM000683.1:g.45709621A>T GRCh37
NC_000021.7:g.44534049A>T NCBI36
NG_009556.1:g.8859A>T , LRG_18:g.8859A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.734A>T MANE Select ENSP00000291582.5:p.Lys245Met
ENST00000291582.5:c.734A>T ENSP00000291582.5:p.Lys245Met
ENST00000527919.5:n.1467A>T
ENST00000530812.5:n.2484A>T
NM_000383.3:c.734A>T NP_000374.1:p.Lys245Met
XM_011529551.1:c.734A>T XP_011527853.1:p.Lys245Met
NM_000383.4:c.734A>T MANE Select NP_000374.1:p.Lys245Met