Canonical Allele Identifier: CA2391567407
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290889C= , CM000683.2:g.44290889C= GRCh38
NC_000021.8:g.45710772C= , CM000683.1:g.45710772C= GRCh37
NC_000021.7:g.44535200C= NCBI36
NG_009556.1:g.10010C= , LRG_18:g.10010C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.880-206C= MANE Select ENSP00000291582.5:n.880-206C=
ENST00000291582.5:c.880-206C= ENSP00000291582.5:n.880-206C=
ENST00000337909.5:n.135C=
ENST00000397994.8:n.135C=
ENST00000527919.5:n.1613-209C=
ENST00000530812.5:n.2630-209C=
NM_000383.3:c.880-206C= NP_000374.1:n.880-206C=
XM_011529551.1:c.880-209C= XP_011527853.1:n.880-209C=
NM_000383.4:c.880-206C= MANE Select NP_000374.1:n.880-206C=