Canonical Allele Identifier: CA2391566884
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289844C= , CM000683.2:g.44289844C= GRCh38
NC_000021.8:g.45709727C= , CM000683.1:g.45709727C= GRCh37
NC_000021.7:g.44534155C= NCBI36
NG_009556.1:g.8965C= , LRG_18:g.8965C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.798+42C= MANE Select ENSP00000291582.5:n.798+42C=
ENST00000291582.5:c.798+42C= ENSP00000291582.5:n.798+42C=
ENST00000527919.5:n.1531+42C=
ENST00000530812.5:n.2548+42C=
NM_000383.3:c.798+42C= NP_000374.1:n.798+42C=
XM_011529551.1:c.798+42C= XP_011527853.1:n.798+42C=
NM_000383.4:c.798+42C= MANE Select NP_000374.1:n.798+42C=