Canonical Allele Identifier: CA2654789904
Gene: AIRE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44292228T>A , CM000683.2:g.44292228T>A GRCh38
NC_000021.8:g.45712111T>A , CM000683.1:g.45712111T>A GRCh37
NC_000021.7:g.44536539T>A NCBI36
NG_009556.1:g.11349T>A , LRG_18:g.11349T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.996-74T>A MANE Select ENSP00000291582.5:n.996-74T>A
ENST00000291582.5:c.996-74T>A ENSP00000291582.5:n.996-74T>A
ENST00000337909.5:n.457-74T>A
ENST00000397994.8:n.457-74T>A
ENST00000527919.5:n.1726-74T>A
ENST00000530812.5:n.2743-74T>A
NM_000383.3:c.996-74T>A NP_000374.1:n.996-74T>A
XM_011529551.1:c.993-74T>A XP_011527853.1:n.993-74T>A
NM_000383.4:c.996-74T>A MANE Select NP_000374.1:n.996-74T>A