{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA412575351", "communityStandardTitle": [ "NM_000444.6(PHEX):c.2150T>G (p.Val717Gly)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3184439[alleleid]", "alleleId": 3184439, "preferredName": "NM_000444.6(PHEX):c.2150T>G (p.Val717Gly)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3024184", "RCV": [ "RCV003882746" ], "variationId": 3024184 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.22265970T>G?assembly=hg19", "id": "chrX:g.22265970T>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.22247853T>G?assembly=hg38", "id": "chrX:g.22247853T>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2518713587", "rs": 2518713587 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "G", "end": 22247853, "referenceAllele": "T", "start": 22247852 } ], "hgvs": [ "NC_000023.11:g.22247853T>G", "CM000685.2:g.22247853T>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "G", "end": 22265970, "referenceAllele": "T", "start": 22265969 } ], "hgvs": [ "NC_000023.10:g.22265970T>G", "CM000685.1:g.22265970T>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "G", "end": 22175891, "referenceAllele": "T", "start": 22175890 } ], "hgvs": [ "NC_000023.9:g.22175891T>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "G", "end": 220050, "referenceAllele": "T", "start": 220049 } ], "hgvs": [ "NG_007563.2:g.220050T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000650" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1036, "referenceAllele": "T", "start": 1035 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "ENST00000683162.1:c.*88T>G" ], "proteinEffect": { "hgvs": "ENSP00000508059.1:n.*88T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS828146" }, { "coordinates": [ { "allele": "G", "end": 942, "endIntronDirection": "+", "endIntronOffset": 20242, "referenceAllele": "T", "start": 942, "startIntronDirection": "+", "startIntronOffset": 20241 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "ENST00000683289.1:c.624+20242T>G" ], "proteinEffect": { "hgvs": "ENSP00000508195.1:n.624+20242T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS828270" }, { "coordinates": [ { "allele": "G", "end": 934, "referenceAllele": "T", "start": 933 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "ENST00000683917.1:n.934T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS828883" }, { "coordinates": [ { "allele": "G", "end": 982, "referenceAllele": "T", "start": 981 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "ENST00000684356.1:c.704T>G" ], "proteinEffect": { "hgvs": "ENSP00000507619.1:p.Val235Gly", "hgvsWellDefined": "ENSP00000507619.1:p.Val235Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS829311" }, { "coordinates": [ { "allele": "G", "end": 1824, "referenceAllele": "T", "start": 1823 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "ENST00000684745.1:n.1824T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS829696" }, { "coordinates": [ { "allele": "G", "end": 2831, "referenceAllele": "T", "start": 2830 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "ENST00000379374.5:c.2150T>G" ], "proteinEffect": { "hgvs": "ENSP00000368682.4:p.Val717Gly", "hgvsWellDefined": "ENSP00000368682.4:p.Val717Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS752217", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000379374.5:c.2150T>G" }, "RefSeq": { "hgvs": "NM_000444.6:c.2150T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000368682.4:p.Val717Gly" }, "RefSeq": { "hgvs": "NP_000435.3:p.Val717Gly" } } } }, { "coordinates": [ { "allele": "G", "end": 2715, "referenceAllele": "T", "start": 2714 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "ENST00000379374.4:c.2150T>G" ], "proteinEffect": { "hgvs": "ENSP00000368682.4:p.Val717Gly", "hgvsWellDefined": "ENSP00000368682.4:p.Val717Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS272467" }, { "@id": "http://reg.genome.network/allele/PA2741817585", "coordinates": [ { "allele": "G", "end": 2712, "referenceAllele": "T", "start": 2711 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "NM_000444.5:c.2150T>G" ], "proteinEffect": { "hgvs": "NP_000435.3:p.Val717Gly", "hgvsWellDefined": "NP_000435.3:p.Val717Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS006506" }, { "@id": "http://reg.genome.network/allele/PA2826668764", "coordinates": [ { "allele": "G", "end": 2635, "referenceAllele": "T", "start": 2634 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "NM_001282754.1:c.2073T>G" ], "proteinEffect": { "hgvs": "NP_001269683.1:p.Gly691=" }, "referenceSequence": "http://reg.genome.network/refseq/RS022224" }, { "coordinates": [ { "allele": "G", "end": 1521, "referenceAllele": "T", "start": 1520 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "XM_011545533.1:c.1394T>G" ], "proteinEffect": { "hgvs": "XP_011543835.1:p.Val465Gly", "hgvsWellDefined": "XP_011543835.1:p.Val465Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS112433" }, { "coordinates": [ { "allele": "G", "end": 1550, "referenceAllele": "T", "start": 1549 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "XM_011545534.1:c.1394T>G" ], "proteinEffect": { "hgvs": "XP_011543836.1:p.Val465Gly", "hgvsWellDefined": "XP_011543836.1:p.Val465Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS112434" }, { "coordinates": [ { "allele": "G", "end": 1172, "referenceAllele": "T", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "XM_011545536.1:c.1043T>G" ], "proteinEffect": { "hgvs": "XP_011543838.1:p.Val348Gly", "hgvsWellDefined": "XP_011543838.1:p.Val348Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS112436" }, { "coordinates": [ { "allele": "C", "end": 140, "endIntronDirection": "+", "endIntronOffset": 6086, "referenceAllele": "A", "start": 140, "startIntronDirection": "+", "startIntronOffset": 6085 } ], "hgvs": [ "XR_950533.1:n.140+6086A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS143594" }, { "coordinates": [ { "allele": "C", "end": 127, "endIntronDirection": "+", "endIntronOffset": 6086, "referenceAllele": "A", "start": 127, "startIntronDirection": "+", "startIntronOffset": 6085 } ], "hgvs": [ "XR_950534.1:n.127+6086A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS143595" }, { "coordinates": [ { "allele": "C", "end": 850, "endIntronDirection": "+", "endIntronOffset": 6086, "referenceAllele": "A", "start": 850, "startIntronDirection": "+", "startIntronOffset": 6085 } ], "gene": "http://reg.genome.network/gene/GN037703", "geneNCBI_id": 100873065, "geneSymbol": "PTCHD1-AS", "hgvs": [ "NR_073010.2:n.850+6086A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS527308" }, { "coordinates": [ { "allele": "G", "end": 1554, "referenceAllele": "T", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "XM_011545536.2:c.1043T>G" ], "proteinEffect": { "hgvs": "XP_011543838.1:p.Val348Gly", "hgvsWellDefined": "XP_011543838.1:p.Val348Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS556129" }, { "coordinates": [ { "allele": "G", "end": 1522, "referenceAllele": "T", "start": 1521 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "XM_017029579.1:c.1394T>G" ], "proteinEffect": { "hgvs": "XP_016885068.1:p.Val465Gly", "hgvsWellDefined": "XP_016885068.1:p.Val465Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS579097" }, { "coordinates": [ { "allele": "G", "end": 2252, "referenceAllele": "T", "start": 2251 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "XM_024452390.1:c.1859T>G" ], "proteinEffect": { "hgvs": "XP_024308158.1:p.Val620Gly", "hgvsWellDefined": "XP_024308158.1:p.Val620Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS585885" }, { "coordinates": [ { "allele": "G", "end": 2990, "referenceAllele": "T", "start": 2989 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "XR_001755695.1:n.2990T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS601328" }, { "@id": "http://reg.genome.network/allele/PA2741817585", "coordinates": [ { "allele": "G", "end": 2831, "referenceAllele": "T", "start": 2830 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "NM_000444.6:c.2150T>G" ], "proteinEffect": { "hgvs": "NP_000435.3:p.Val717Gly", "hgvsWellDefined": "NP_000435.3:p.Val717Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS662448", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000379374.5:c.2150T>G" }, "RefSeq": { "hgvs": "NM_000444.6:c.2150T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000368682.4:p.Val717Gly" }, "RefSeq": { "hgvs": "NP_000435.3:p.Val717Gly" } } } }, { "@id": "http://reg.genome.network/allele/PA2826668764", "coordinates": [ { "allele": "G", "end": 2754, "referenceAllele": "T", "start": 2753 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "NM_001282754.2:c.2073T>G" ], "proteinEffect": { "hgvs": "NP_001269683.1:p.Gly691=" }, "referenceSequence": "http://reg.genome.network/refseq/RS681890" } ], "type": "nucleotide" }