Canonical Allele Identifier: CA2391566822
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289727T= , CM000683.2:g.44289727T= GRCh38
NC_000021.8:g.45709610T= , CM000683.1:g.45709610T= GRCh37
NC_000021.7:g.44534038T= NCBI36
NG_009556.1:g.8848T= , LRG_18:g.8848T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.723T= MANE Select ENSP00000291582.5:p.Ser241=
ENST00000291582.5:c.723T= ENSP00000291582.5:p.Ser241=
ENST00000527919.5:n.1456T=
ENST00000530812.5:n.2473T=
NM_000383.3:c.723T= NP_000374.1:p.Ser241=
XM_011529551.1:c.723T= XP_011527853.1:p.Ser241=
NM_000383.4:c.723T= MANE Select NP_000374.1:p.Ser241=