Canonical Allele Identifier: CA10051686
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs747099392

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289714A>G , CM000683.2:g.44289714A>G GRCh38
NC_000021.8:g.45709597A>G , CM000683.1:g.45709597A>G GRCh37
NC_000021.7:g.44534025A>G NCBI36
NG_009556.1:g.8835A>G , LRG_18:g.8835A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.710A>G MANE Select ENSP00000291582.5:p.Glu237Gly
ENST00000291582.5:c.710A>G ENSP00000291582.5:p.Glu237Gly
ENST00000527919.5:n.1443A>G
ENST00000530812.5:n.2460A>G
NM_000383.3:c.710A>G NP_000374.1:p.Glu237Gly
XM_011529551.1:c.710A>G XP_011527853.1:p.Glu237Gly
NM_000383.4:c.710A>G MANE Select NP_000374.1:p.Glu237Gly