Canonical Allele Identifier: CA199112
Gene: AIRE HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.44286656T>C
GRCh37 chr21:g.45706539T>C
Revel Score:
ENST00000291582 (MANE Select) 0.901
gnomAD v2:
21:45706539 T / C
gnomAD v3:
21:44286656 T / C
gnomAD v4:
chr21-44286656-T-C
Joint Max Group AF 0.00000429 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00000262 (NFE)
ClinVar RCV:
RCV000169457
RCV001575328
ClinVar Variation:
189060
dbSNP:
179363880
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44286656T>C , CM000683.2:g.44286656T>C GRCh38
NC_000021.8:g.45706539T>C , CM000683.1:g.45706539T>C GRCh37
NC_000021.7:g.44530967T>C NCBI36
NG_009556.1:g.5777T>C , LRG_18:g.5777T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.232T>C MANE Select ENSP00000291582.5:p.Trp78Arg
ENST00000291582.5:c.232T>C ENSP00000291582.5:p.Trp78Arg
ENST00000527919.5:n.393T>C
ENST00000530812.5:n.401T>C
NM_000383.3:c.232T>C NP_000374.1:p.Trp78Arg
XM_011529551.1:c.232T>C XP_011527853.1:p.Trp78Arg
NM_000383.4:c.232T>C MANE Select NP_000374.1:p.Trp78Arg
Search 100 bp 5'
Search 100 bp 3'