Canonical Allele Identifier: CA410424107
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs1191155154
gnomAD v2: 21-45708251-G-A
gnomAD v4: 21-44288368-G-A
MyVariant Identifiers: chr21:g.45708251G>A (hg19) chr21:g.44288368G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288368G>A , CM000683.2:g.44288368G>A GRCh38
NC_000021.8:g.45708251G>A , CM000683.1:g.45708251G>A GRCh37
NC_000021.7:g.44532679G>A NCBI36
NG_009556.1:g.7489G>A , LRG_18:g.7489G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.562G>A MANE Select ENSP00000291582.5:p.Val188Ile
ENST00000291582.5:c.562G>A ENSP00000291582.5:p.Val188Ile
ENST00000527919.5:n.1106G>A
ENST00000530812.5:n.1114G>A
NM_000383.3:c.562G>A NP_000374.1:p.Val188Ile
XM_011529551.1:c.562G>A XP_011527853.1:p.Val188Ile
NM_000383.4:c.562G>A MANE Select NP_000374.1:p.Val188Ile
Search 100 bp 5'
Search 100 bp 3'