Canonical Allele Identifier: CA410424715
Gene: AIRE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290042C>T , CM000683.2:g.44290042C>T GRCh38
NC_000021.8:g.45709925C>T , CM000683.1:g.45709925C>T GRCh37
NC_000021.7:g.44534353C>T NCBI36
NG_009556.1:g.9163C>T , LRG_18:g.9163C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.853C>T MANE Select ENSP00000291582.5:p.Leu285Phe
ENST00000291582.5:c.853C>T ENSP00000291582.5:p.Leu285Phe
ENST00000527919.5:n.1586C>T
ENST00000530812.5:n.2603C>T
NM_000383.3:c.853C>T NP_000374.1:p.Leu285Phe
XM_011529551.1:c.853C>T XP_011527853.1:p.Leu285Phe
NM_000383.4:c.853C>T MANE Select NP_000374.1:p.Leu285Phe