Canonical Allele Identifier: CA8928279
Gene: DSG3 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.31475994A>G
GRCh37 chr18:g.29055957A>G
Revel Score:
ENST00000257189 (MANE Select) 0.111
gnomAD v2:
18:29055957 A / G
gnomAD v3:
18:31475994 A / G
gnomAD v4:
chr18-31475994-A-G
Joint Max Group AF 0.99651214 (NFE)
Genomes Max Group AF 0.99163623 (NFE)
Exomes Max Group AF 0.99647221 (NFE)
ClinVar RCV:
RCV001686583
ClinVar Variation:
1272427
dbSNP:
1380866
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31475994A>G , CM000680.2:g.31475994A>G GRCh38
NC_000018.9:g.29055957A>G , CM000680.1:g.29055957A>G GRCh37
NC_000018.8:g.27309955A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257189.5:c.2734A>G MANE Select ENSP00000257189.4:p.Thr912Ala
ENST00000257189.4:c.2734A>G ENSP00000257189.4:p.Thr912Ala
NM_001944.2:c.2734A>G NP_001935.2:p.Thr912Ala
XM_011525850.1:c.2731A>G XP_011524152.1:p.Thr911Ala
XM_011525850.2:c.2731A>G XP_011524152.1:p.Thr911Ala
NM_001944.3:c.2734A>G MANE Select NP_001935.2:p.Thr912Ala
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