Canonical Allele Identifier: CA10051685
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs778067704

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289713G>A , CM000683.2:g.44289713G>A GRCh38
NC_000021.8:g.45709596G>A , CM000683.1:g.45709596G>A GRCh37
NC_000021.7:g.44534024G>A NCBI36
NG_009556.1:g.8834G>A , LRG_18:g.8834G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.709G>A MANE Select ENSP00000291582.5:p.Glu237Lys
ENST00000291582.5:c.709G>A ENSP00000291582.5:p.Glu237Lys
ENST00000527919.5:n.1442G>A
ENST00000530812.5:n.2459G>A
NM_000383.3:c.709G>A NP_000374.1:p.Glu237Lys
XM_011529551.1:c.709G>A XP_011527853.1:p.Glu237Lys
NM_000383.4:c.709G>A MANE Select NP_000374.1:p.Glu237Lys