{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA404318675",
  "communityStandardTitle": [
    "NM_000159.4(GCDH):c.701G>C (p.Arg234Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=613625[alleleid]",
        "alleleId": 613625,
        "preferredName": "NM_000159.4(GCDH):c.701G>C (p.Arg234Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/625293",
        "RCV": [
          "RCV000767352"
        ],
        "variationId": 625293
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.13007084G>C?assembly=hg19",
        "id": "chr19:g.13007084G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.12896270G>C?assembly=hg38",
        "id": "chr19:g.12896270G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1203022386",
        "rs": 1203022386
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 12896270,
          "referenceAllele": "G",
          "start": 12896269
        }
      ],
      "hgvs": [
        "NC_000019.10:g.12896270G>C",
        "CM000681.2:g.12896270G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 13007084,
          "referenceAllele": "G",
          "start": 13007083
        }
      ],
      "hgvs": [
        "NC_000019.9:g.13007084G>C",
        "CM000681.1:g.13007084G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 12868084,
          "referenceAllele": "G",
          "start": 12868083
        }
      ],
      "hgvs": [
        "NC_000019.8:g.12868084G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10111,
          "referenceAllele": "G",
          "start": 10110
        }
      ],
      "hgvs": [
        "NG_009292.1:g.10111G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001548"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 778,
          "referenceAllele": "G",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000222214.10:c.701G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222214.4:p.Arg234Pro",
        "hgvsWellDefined": "ENSP00000222214.4:p.Arg234Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740551",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222214.10:c.701G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000159.4:c.701G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222214.4:p.Arg234Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000150.1:p.Arg234Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 912,
          "referenceAllele": "G",
          "start": 911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000222214.9:c.701G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222214.4:p.Arg234Pro",
        "hgvsWellDefined": "ENSP00000222214.4:p.Arg234Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248350"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 679,
          "referenceAllele": "G",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000421816.6:n.679G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS286984"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1031,
          "referenceAllele": "G",
          "start": 1030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000585420.5:n.1031G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388707"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 827,
          "referenceAllele": "G",
          "start": 826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000590530.5:c.*141G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468452.1:n.*141G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392249"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 737,
          "referenceAllele": "G",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000591043.1:n.737G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392611"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 846,
          "referenceAllele": "G",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000591470.5:c.701G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466845.1:p.Arg234Pro",
        "hgvsWellDefined": "ENSP00000466845.1:p.Arg234Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392892"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913191967",
      "coordinates": [
        {
          "allele": "C",
          "end": 809,
          "referenceAllele": "G",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_000159.3:c.701G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000150.1:p.Arg234Pro",
        "hgvsWellDefined": "NP_000150.1:p.Arg234Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006221"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916009129",
      "coordinates": [
        {
          "allele": "C",
          "end": 809,
          "referenceAllele": "G",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_013976.3:c.701G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_039663.1:p.Arg234Pro",
        "hgvsWellDefined": "NP_039663.1:p.Arg234Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032843"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 864,
          "referenceAllele": "G",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NR_102316.1:n.864G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052774"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1082,
          "referenceAllele": "G",
          "start": 1081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NR_102317.1:n.1082G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052775"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 778,
          "referenceAllele": "G",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_006722721.2:c.701G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722784.1:p.Arg234Pro",
        "hgvsWellDefined": "XP_006722784.1:p.Arg234Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074704"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 778,
          "referenceAllele": "G",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527899.1:c.701G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526201.1:p.Arg234Pro",
        "hgvsWellDefined": "XP_011526201.1:p.Arg234Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094980"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 778,
          "referenceAllele": "G",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527900.1:c.701G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526202.1:p.Arg234Pro",
        "hgvsWellDefined": "XP_011526202.1:p.Arg234Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094981"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 778,
          "referenceAllele": "G",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527899.2:c.701G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526201.1:p.Arg234Pro",
        "hgvsWellDefined": "XP_011526201.1:p.Arg234Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548874"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 778,
          "referenceAllele": "G",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527900.2:c.701G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526202.1:p.Arg234Pro",
        "hgvsWellDefined": "XP_011526202.1:p.Arg234Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548875"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 778,
          "referenceAllele": "G",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_017026580.1:c.701G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882069.1:p.Arg234Pro",
        "hgvsWellDefined": "XP_016882069.1:p.Arg234Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576706"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913191967",
      "coordinates": [
        {
          "allele": "C",
          "end": 778,
          "referenceAllele": "G",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_000159.4:c.701G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000150.1:p.Arg234Pro",
        "hgvsWellDefined": "NP_000150.1:p.Arg234Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662332",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222214.10:c.701G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000159.4:c.701G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222214.4:p.Arg234Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000150.1:p.Arg234Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916009129",
      "coordinates": [
        {
          "allele": "C",
          "end": 778,
          "referenceAllele": "G",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_013976.4:c.701G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_039663.1:p.Arg234Pro",
        "hgvsWellDefined": "NP_039663.1:p.Arg234Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916009129",
      "coordinates": [
        {
          "allele": "C",
          "end": 778,
          "referenceAllele": "G",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_013976.5:c.701G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_039663.1:p.Arg234Pro",
        "hgvsWellDefined": "NP_039663.1:p.Arg234Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727927"
    }
  ],
  "type": "nucleotide"
}