Canonical Allele Identifier: CA2391570529
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44296280C= , CM000683.2:g.44296280C= GRCh38
NC_000021.8:g.45716163C= , CM000683.1:g.45716163C= GRCh37
NC_000021.7:g.44540591C= NCBI36
NG_009556.1:g.15401C= , LRG_18:g.15401C=
NG_034033.1:g.1247C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.1504-103C= MANE Select ENSP00000291582.5:n.1504-103C=
ENST00000291582.5:c.1504-103C= ENSP00000291582.5:n.1504-103C=
ENST00000337909.5:n.965-103C=
ENST00000397994.8:n.883-103C=
ENST00000527919.5:n.2263-103C=
ENST00000530812.5:n.3251-103C=
NM_000383.3:c.1504-103C= NP_000374.1:n.1504-103C=
XM_011529551.1:c.1501-103C= XP_011527853.1:n.1501-103C=
NM_000383.4:c.1504-103C= MANE Select NP_000374.1:n.1504-103C=