Canonical Allele Identifier: CA410424734
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs2146379723

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290052A>C , CM000683.2:g.44290052A>C GRCh38
NC_000021.8:g.45709935A>C , CM000683.1:g.45709935A>C GRCh37
NC_000021.7:g.44534363A>C NCBI36
NG_009556.1:g.9173A>C , LRG_18:g.9173A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.863A>C MANE Select ENSP00000291582.5:p.Asp288Ala
ENST00000291582.5:c.863A>C ENSP00000291582.5:p.Asp288Ala
ENST00000527919.5:n.1596A>C
ENST00000530812.5:n.2613A>C
NM_000383.3:c.863A>C NP_000374.1:p.Asp288Ala
XM_011529551.1:c.863A>C XP_011527853.1:p.Asp288Ala
NM_000383.4:c.863A>C MANE Select NP_000374.1:p.Asp288Ala