Canonical Allele Identifier: CA2391566369
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288848C= , CM000683.2:g.44288848C= GRCh38
NC_000021.8:g.45708731C= , CM000683.1:g.45708731C= GRCh37
NC_000021.7:g.44533159C= NCBI36
NG_009556.1:g.7969C= , LRG_18:g.7969C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.652+390C= MANE Select ENSP00000291582.5:n.652+390C=
ENST00000291582.5:c.652+390C= ENSP00000291582.5:n.652+390C=
ENST00000527919.5:n.1197-380C=
ENST00000530812.5:n.1594C=
NM_000383.3:c.652+390C= NP_000374.1:n.652+390C=
XM_011529551.1:c.652+390C= XP_011527853.1:n.652+390C=
NM_000383.4:c.652+390C= MANE Select NP_000374.1:n.652+390C=