Canonical Allele Identifier: CA376389682
Gene: PTCHD3 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.27413598T>C
GRCh37 chr10:g.27702527T>C
Revel Score:
ENST00000438700 0.217
gnomAD v2:
10:27702527 T / C
gnomAD v3:
10:27413598 T / C
gnomAD v4:
chr10-27413598-T-C
Joint Max Group AF 0.00001064 (AFR)
Genomes Max Group AF 0.00001921 (AFR)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV004071381
ClinVar Variation:
2206983
dbSNP:
1343025837
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.27413598T>C , CM000672.2:g.27413598T>C GRCh38
NC_000010.10:g.27702527T>C , CM000672.1:g.27702527T>C GRCh37
NC_000010.9:g.27742533T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000642324.1:c.653A>G ENSP00000495205.1:p.Asp218Gly
ENST00000438700.7:c.653A>G ENSP00000417658.2:p.Asp218Gly
ENST00000622555.1:c.653A>G ENSP00000479436.1:p.Asp218Gly
NM_001034842.3:c.653A>G NP_001030014.2:p.Asp218Gly
XM_005252449.2:c.653A>G XP_005252506.1:p.Asp218Gly
NM_001034842.4:c.653A>G NP_001030014.2:p.Asp218Gly
NM_001034842.5:c.653A>G NP_001030014.2:p.Asp218Gly
NM_001395743.1:c.653A>G NP_001382672.1:p.Asp218Gly
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