Canonical Allele Identifier: CA2391568197
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44292403T= , CM000683.2:g.44292403T= GRCh38
NC_000021.8:g.45712286T= , CM000683.1:g.45712286T= GRCh37
NC_000021.7:g.44536714T= NCBI36
NG_009556.1:g.11524T= , LRG_18:g.11524T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.1095+2T= MANE Select ENSP00000291582.5:n.1095+2T=
ENST00000291582.5:c.1095+2T= ENSP00000291582.5:n.1095+2T=
ENST00000337909.5:n.556+2T=
ENST00000397994.8:n.556+2T=
ENST00000527919.5:n.1825+2T=
ENST00000530812.5:n.2842+2T=
NM_000383.3:c.1095+2T= NP_000374.1:n.1095+2T=
XM_011529551.1:c.1092+2T= XP_011527853.1:n.1092+2T=
NM_000383.4:c.1095+2T= MANE Select NP_000374.1:n.1095+2T=