{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9234477",
  "communityStandardTitle": [
    "NM_000159.4(GCDH):c.737C>T (p.Ser246Leu)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3528919",
        "active": true,
        "id": "COSM3528919"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3528920",
        "active": true,
        "id": "COSM3528920"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3528921",
        "active": true,
        "id": "COSM3528921"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=468497[alleleid]",
        "alleleId": 468497,
        "preferredName": "NM_000159.4(GCDH):c.737C>T (p.Ser246Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/459952",
        "RCV": [
          "RCV000530261"
        ],
        "variationId": 459952
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-13007120-C-T",
        "id": "19-13007120-C-T",
        "variant": "19:13007120 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.13007120C>T?assembly=hg19",
        "id": "chr19:g.13007120C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.12896306C>T?assembly=hg38",
        "id": "chr19:g.12896306C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/754312389",
        "rs": 754312389
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-13007120-C-T?dataset=gnomad_r2_1",
        "id": "19-13007120-C-T",
        "variant": "19:13007120 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-12896306-C-T?dataset=gnomad_r3",
        "id": "19-12896306-C-T",
        "variant": "19:12896306 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-12896306-C-T?dataset=gnomad_r4",
        "id": "19-12896306-C-T",
        "variant": "19:12896306 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 12896306,
          "referenceAllele": "C",
          "start": 12896305
        }
      ],
      "hgvs": [
        "NC_000019.10:g.12896306C>T",
        "CM000681.2:g.12896306C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 13007120,
          "referenceAllele": "C",
          "start": 13007119
        }
      ],
      "hgvs": [
        "NC_000019.9:g.13007120C>T",
        "CM000681.1:g.13007120C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 12868120,
          "referenceAllele": "C",
          "start": 12868119
        }
      ],
      "hgvs": [
        "NC_000019.8:g.12868120C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10147,
          "referenceAllele": "C",
          "start": 10146
        }
      ],
      "hgvs": [
        "NG_009292.1:g.10147C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001548"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 814,
          "referenceAllele": "C",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000222214.10:c.737C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222214.4:p.Ser246Leu",
        "hgvsWellDefined": "ENSP00000222214.4:p.Ser246Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740551",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222214.10:c.737C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000159.4:c.737C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222214.4:p.Ser246Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000150.1:p.Ser246Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 948,
          "referenceAllele": "C",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000222214.9:c.737C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222214.4:p.Ser246Leu",
        "hgvsWellDefined": "ENSP00000222214.4:p.Ser246Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248350"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 715,
          "referenceAllele": "C",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000421816.6:n.715C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS286984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1067,
          "referenceAllele": "C",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000585420.5:n.1067C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388707"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 863,
          "referenceAllele": "C",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000590530.5:c.*177C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468452.1:n.*177C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392249"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 773,
          "referenceAllele": "C",
          "start": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000591043.1:n.773C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392611"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 882,
          "referenceAllele": "C",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000591470.5:c.737C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466845.1:p.Ser246Leu",
        "hgvsWellDefined": "ENSP00000466845.1:p.Ser246Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392892"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658676650",
      "coordinates": [
        {
          "allele": "T",
          "end": 845,
          "referenceAllele": "C",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_000159.3:c.737C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000150.1:p.Ser246Leu",
        "hgvsWellDefined": "NP_000150.1:p.Ser246Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006221"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916009136",
      "coordinates": [
        {
          "allele": "T",
          "end": 845,
          "referenceAllele": "C",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_013976.3:c.737C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_039663.1:p.Ser246Leu",
        "hgvsWellDefined": "NP_039663.1:p.Ser246Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032843"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 900,
          "referenceAllele": "C",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NR_102316.1:n.900C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052774"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1118,
          "referenceAllele": "C",
          "start": 1117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NR_102317.1:n.1118C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052775"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 814,
          "referenceAllele": "C",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_006722721.2:c.737C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722784.1:p.Ser246Leu",
        "hgvsWellDefined": "XP_006722784.1:p.Ser246Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074704"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 814,
          "referenceAllele": "C",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527899.1:c.737C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526201.1:p.Ser246Leu",
        "hgvsWellDefined": "XP_011526201.1:p.Ser246Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 814,
          "referenceAllele": "C",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527900.1:c.737C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526202.1:p.Ser246Leu",
        "hgvsWellDefined": "XP_011526202.1:p.Ser246Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094981"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 814,
          "referenceAllele": "C",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527899.2:c.737C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526201.1:p.Ser246Leu",
        "hgvsWellDefined": "XP_011526201.1:p.Ser246Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 814,
          "referenceAllele": "C",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527900.2:c.737C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526202.1:p.Ser246Leu",
        "hgvsWellDefined": "XP_011526202.1:p.Ser246Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548875"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 814,
          "referenceAllele": "C",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_017026580.1:c.737C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882069.1:p.Ser246Leu",
        "hgvsWellDefined": "XP_016882069.1:p.Ser246Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576706"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658676650",
      "coordinates": [
        {
          "allele": "T",
          "end": 814,
          "referenceAllele": "C",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_000159.4:c.737C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000150.1:p.Ser246Leu",
        "hgvsWellDefined": "NP_000150.1:p.Ser246Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662332",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222214.10:c.737C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000159.4:c.737C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222214.4:p.Ser246Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000150.1:p.Ser246Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916009136",
      "coordinates": [
        {
          "allele": "T",
          "end": 814,
          "referenceAllele": "C",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_013976.4:c.737C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_039663.1:p.Ser246Leu",
        "hgvsWellDefined": "NP_039663.1:p.Ser246Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916009136",
      "coordinates": [
        {
          "allele": "T",
          "end": 814,
          "referenceAllele": "C",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_013976.5:c.737C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_039663.1:p.Ser246Leu",
        "hgvsWellDefined": "NP_039663.1:p.Ser246Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727927"
    }
  ],
  "type": "nucleotide"
}