Canonical Allele Identifier: CA116151
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 3317
ClinVar RCV Id: RCV000003481
dbSNP Id: rs267606642

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44286663T>G , CM000683.2:g.44286663T>G GRCh38
NC_000021.8:g.45706546T>G , CM000683.1:g.45706546T>G GRCh37
NC_000021.7:g.44530974T>G NCBI36
NG_009556.1:g.5784T>G , LRG_18:g.5784T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.239T>G MANE Select ENSP00000291582.5:p.Val80Gly
ENST00000291582.5:c.239T>G ENSP00000291582.5:p.Val80Gly
ENST00000527919.5:n.400T>G
ENST00000530812.5:n.408T>G
NM_000383.3:c.239T>G NP_000374.1:p.Val80Gly
XM_011529551.1:c.239T>G XP_011527853.1:p.Val80Gly
NM_000383.4:c.239T>G MANE Select NP_000374.1:p.Val80Gly