Canonical Allele Identifier: CA2391568131
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44292305G= , CM000683.2:g.44292305G= GRCh38
NC_000021.8:g.45712188G= , CM000683.1:g.45712188G= GRCh37
NC_000021.7:g.44536616G= NCBI36
NG_009556.1:g.11426G= , LRG_18:g.11426G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.999G= MANE Select ENSP00000291582.5:p.Gly333=
ENST00000291582.5:c.999G= ENSP00000291582.5:p.Gly333=
ENST00000337909.5:n.460G=
ENST00000397994.8:n.460G=
ENST00000527919.5:n.1729G=
ENST00000530812.5:n.2746G=
NM_000383.3:c.999G= NP_000374.1:p.Gly333=
XM_011529551.1:c.996G= XP_011527853.1:p.Gly332=
NM_000383.4:c.999G= MANE Select NP_000374.1:p.Gly333=