Canonical Allele Identifier: CA2391566146
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288395G= , CM000683.2:g.44288395G= GRCh38
NC_000021.8:g.45708278G= , CM000683.1:g.45708278G= GRCh37
NC_000021.7:g.44532706G= NCBI36
NG_009556.1:g.7516G= , LRG_18:g.7516G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.589G= MANE Select ENSP00000291582.5:p.Gly197=
ENST00000291582.5:c.589G= ENSP00000291582.5:p.Gly197=
ENST00000527919.5:n.1133G=
ENST00000530812.5:n.1141G=
NM_000383.3:c.589G= NP_000374.1:p.Gly197=
XM_011529551.1:c.589G= XP_011527853.1:p.Gly197=
NM_000383.4:c.589G= MANE Select NP_000374.1:p.Gly197=