Canonical Allele Identifier: CA116147
Gene: AIRE HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.44286007A>T
GRCh37 chr21:g.45705890A>T
Revel Score:
ENST00000291582 (MANE Select) 0.504
gnomAD v3:
21:44286007 A / T
gnomAD v4:
chr21-44286007-A-T
Joint Max Group AF 0.00000189 (NFE)
Exomes Max Group AF 0.00000136 (NFE)
ClinVar RCV:
RCV000003478
RCV001091469
ClinVar Variation:
3314
dbSNP:
121434258
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44286007A>T , CM000683.2:g.44286007A>T GRCh38
NC_000021.8:g.45705890A>T , CM000683.1:g.45705890A>T GRCh37
NC_000021.7:g.44530318A>T NCBI36
NG_009556.1:g.5128A>T , LRG_18:g.5128A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.1A>T MANE Select ENSP00000291582.5:p.Met1Leu
ENST00000291582.5:c.1A>T ENSP00000291582.5:p.Met1Leu
ENST00000527919.5:n.162A>T
ENST00000530812.5:n.170A>T
NM_000383.3:c.1A>T NP_000374.1:p.Met1Leu
XM_011529551.1:c.1A>T XP_011527853.1:p.Met1Leu
NM_000383.4:c.1A>T MANE Select NP_000374.1:p.Met1Leu
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