Canonical Allele Identifier: CA410425058
Gene: AIRE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44292311G>A , CM000683.2:g.44292311G>A GRCh38
NC_000021.8:g.45712194G>A , CM000683.1:g.45712194G>A GRCh37
NC_000021.7:g.44536622G>A NCBI36
NG_009556.1:g.11432G>A , LRG_18:g.11432G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.1005G>A MANE Select ENSP00000291582.5:p.Trp335Ter
ENST00000291582.5:c.1005G>A ENSP00000291582.5:p.Trp335Ter
ENST00000337909.5:n.466G>A
ENST00000397994.8:n.466G>A
ENST00000527919.5:n.1735G>A
ENST00000530812.5:n.2752G>A
NM_000383.3:c.1005G>A NP_000374.1:p.Trp335Ter
XM_011529551.1:c.1002G>A XP_011527853.1:p.Trp334Ter
NM_000383.4:c.1005G>A MANE Select NP_000374.1:p.Trp335Ter