Canonical Allele Identifier: CA410425995
Gene: AIRE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44294480C>A , CM000683.2:g.44294480C>A GRCh38
NC_000021.8:g.45714363C>A , CM000683.1:g.45714363C>A GRCh37
NC_000021.7:g.44538791C>A NCBI36
NG_009556.1:g.13601C>A , LRG_18:g.13601C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.1480C>A MANE Select ENSP00000291582.5:p.Arg494Ser
ENST00000291582.5:c.1480C>A ENSP00000291582.5:p.Arg494Ser
ENST00000337909.5:n.941C>A
ENST00000397994.8:n.859C>A
ENST00000527919.5:n.2239C>A
ENST00000530812.5:n.3227C>A
NM_000383.3:c.1480C>A NP_000374.1:p.Arg494Ser
XM_011529551.1:c.1477C>A XP_011527853.1:p.Arg493Ser
NM_000383.4:c.1480C>A MANE Select NP_000374.1:p.Arg494Ser