Canonical Allele Identifier: CA410424161
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs1185406745

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288396G>T , CM000683.2:g.44288396G>T GRCh38
NC_000021.8:g.45708279G>T , CM000683.1:g.45708279G>T GRCh37
NC_000021.7:g.44532707G>T NCBI36
NG_009556.1:g.7517G>T , LRG_18:g.7517G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.590G>T MANE Select ENSP00000291582.5:p.Gly197Val
ENST00000291582.5:c.590G>T ENSP00000291582.5:p.Gly197Val
ENST00000527919.5:n.1134G>T
ENST00000530812.5:n.1142G>T
NM_000383.3:c.590G>T NP_000374.1:p.Gly197Val
XM_011529551.1:c.590G>T XP_011527853.1:p.Gly197Val
NM_000383.4:c.590G>T MANE Select NP_000374.1:p.Gly197Val