Canonical Allele Identifier: CA2391566821
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289726G= , CM000683.2:g.44289726G= GRCh38
NC_000021.8:g.45709609G= , CM000683.1:g.45709609G= GRCh37
NC_000021.7:g.44534037G= NCBI36
NG_009556.1:g.8847G= , LRG_18:g.8847G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.722G= MANE Select ENSP00000291582.5:p.Ser241=
ENST00000291582.5:c.722G= ENSP00000291582.5:p.Ser241=
ENST00000527919.5:n.1455G=
ENST00000530812.5:n.2472G=
NM_000383.3:c.722G= NP_000374.1:p.Ser241=
XM_011529551.1:c.722G= XP_011527853.1:p.Ser241=
NM_000383.4:c.722G= MANE Select NP_000374.1:p.Ser241=