Canonical Allele Identifier: CA2391566323
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288750G= , CM000683.2:g.44288750G= GRCh38
NC_000021.8:g.45708633G= , CM000683.1:g.45708633G= GRCh37
NC_000021.7:g.44533061G= NCBI36
NG_009556.1:g.7871G= , LRG_18:g.7871G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.652+292G= MANE Select ENSP00000291582.5:n.652+292G=
ENST00000291582.5:c.652+292G= ENSP00000291582.5:n.652+292G=
ENST00000527919.5:n.1196+292G=
ENST00000530812.5:n.1496G=
NM_000383.3:c.652+292G= NP_000374.1:n.652+292G=
XM_011529551.1:c.652+292G= XP_011527853.1:n.652+292G=
NM_000383.4:c.652+292G= MANE Select NP_000374.1:n.652+292G=