Canonical Allele Identifier: CA410424463
Gene: AIRE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289733G>T , CM000683.2:g.44289733G>T GRCh38
NC_000021.8:g.45709616G>T , CM000683.1:g.45709616G>T GRCh37
NC_000021.7:g.44534044G>T NCBI36
NG_009556.1:g.8854G>T , LRG_18:g.8854G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.729G>T MANE Select ENSP00000291582.5:p.Lys243Asn
ENST00000291582.5:c.729G>T ENSP00000291582.5:p.Lys243Asn
ENST00000527919.5:n.1462G>T
ENST00000530812.5:n.2479G>T
NM_000383.3:c.729G>T NP_000374.1:p.Lys243Asn
XM_011529551.1:c.729G>T XP_011527853.1:p.Lys243Asn
NM_000383.4:c.729G>T MANE Select NP_000374.1:p.Lys243Asn