Canonical Allele Identifier: CA2391566341
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288797G= , CM000683.2:g.44288797G= GRCh38
NC_000021.8:g.45708680G= , CM000683.1:g.45708680G= GRCh37
NC_000021.7:g.44533108G= NCBI36
NG_009556.1:g.7918G= , LRG_18:g.7918G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.652+339G= MANE Select ENSP00000291582.5:n.652+339G=
ENST00000291582.5:c.652+339G= ENSP00000291582.5:n.652+339G=
ENST00000527919.5:n.1196+339G=
ENST00000530812.5:n.1543G=
NM_000383.3:c.652+339G= NP_000374.1:n.652+339G=
XM_011529551.1:c.652+339G= XP_011527853.1:n.652+339G=
NM_000383.4:c.652+339G= MANE Select NP_000374.1:n.652+339G=