Canonical Allele Identifier: CA2391565557
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287300T= , CM000683.2:g.44287300T= GRCh38
NC_000021.8:g.45707183T= , CM000683.1:g.45707183T= GRCh37
NC_000021.7:g.44531611T= NCBI36
NG_009556.1:g.6421T= , LRG_18:g.6421T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.463+167T= MANE Select ENSP00000291582.5:n.463+167T=
ENST00000291582.5:c.463+167T= ENSP00000291582.5:n.463+167T=
ENST00000527919.5:n.791T=
ENST00000530812.5:n.799T=
NM_000383.3:c.463+167T= NP_000374.1:n.463+167T=
XM_011529551.1:c.463+167T= XP_011527853.1:n.463+167T=
NM_000383.4:c.463+167T= MANE Select NP_000374.1:n.463+167T=