Canonical Allele Identifier: CA410423419
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 3016461
ClinVar RCV Id: RCV003876612

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44286662G>A , CM000683.2:g.44286662G>A GRCh38
NC_000021.8:g.45706545G>A , CM000683.1:g.45706545G>A GRCh37
NC_000021.7:g.44530973G>A NCBI36
NG_009556.1:g.5783G>A , LRG_18:g.5783G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.238G>A MANE Select ENSP00000291582.5:p.Val80Met
ENST00000291582.5:c.238G>A ENSP00000291582.5:p.Val80Met
ENST00000527919.5:n.399G>A
ENST00000530812.5:n.407G>A
NM_000383.3:c.238G>A NP_000374.1:p.Val80Met
XM_011529551.1:c.238G>A XP_011527853.1:p.Val80Met
NM_000383.4:c.238G>A MANE Select NP_000374.1:p.Val80Met