Canonical Allele Identifier: CA2391568136
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44292313G= , CM000683.2:g.44292313G= GRCh38
NC_000021.8:g.45712196G= , CM000683.1:g.45712196G= GRCh37
NC_000021.7:g.44536624G= NCBI36
NG_009556.1:g.11434G= , LRG_18:g.11434G=

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.1007G= MANE Select ENSP00000291582.5:p.Arg336=
ENST00000291582.5:c.1007G= ENSP00000291582.5:p.Arg336=
ENST00000337909.5:n.468G=
ENST00000397994.8:n.468G=
ENST00000527919.5:n.1737G=
ENST00000530812.5:n.2754G=
NM_000383.3:c.1007G= NP_000374.1:p.Arg336=
XM_011529551.1:c.1004G= XP_011527853.1:p.Arg335=
NM_000383.4:c.1007G= MANE Select NP_000374.1:p.Arg336=