{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2323623353",
  "communityStandardTitle": [
    "NM_000159.4(GCDH):c.743C= (p.Pro248=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516344",
        "rs": 1057516344
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 12896312,
          "referenceAllele": "C",
          "start": 12896311
        }
      ],
      "hgvs": [
        "NC_000019.10:g.12896312C=",
        "CM000681.2:g.12896312C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 13007126,
          "referenceAllele": "C",
          "start": 13007125
        }
      ],
      "hgvs": [
        "NC_000019.9:g.13007126C=",
        "CM000681.1:g.13007126C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 12868126,
          "referenceAllele": "C",
          "start": 12868125
        }
      ],
      "hgvs": [
        "NC_000019.8:g.12868126C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10153,
          "referenceAllele": "C",
          "start": 10152
        }
      ],
      "hgvs": [
        "NG_009292.1:g.10153C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001548"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 820,
          "referenceAllele": "C",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000222214.10:c.743C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222214.4:p.Pro248="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740551",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222214.10:c.743C="
          },
          "RefSeq": {
            "hgvs": "NM_000159.4:c.743C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222214.4:p.Pro248="
          },
          "RefSeq": {
            "hgvs": "NP_000150.1:p.Pro248="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 954,
          "referenceAllele": "C",
          "start": 953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000222214.9:c.743C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222214.4:p.Pro248="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248350"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 721,
          "referenceAllele": "C",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000421816.6:n.721C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS286984"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1073,
          "referenceAllele": "C",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000585420.5:n.1073C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388707"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 869,
          "referenceAllele": "C",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000590530.5:c.*183C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468452.1:n.*183C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392249"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 779,
          "referenceAllele": "C",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000591043.1:n.779C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392611"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 888,
          "referenceAllele": "C",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000591470.5:c.743C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466845.1:p.Pro248="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392892"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 851,
          "referenceAllele": "C",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_000159.3:c.743C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000150.1:p.Pro248="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006221"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3086329835",
      "coordinates": [
        {
          "allele": "C",
          "end": 851,
          "referenceAllele": "C",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_013976.3:c.743C="
      ],
      "proteinEffect": {
        "hgvs": "NP_039663.1:p.Pro248="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032843"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 906,
          "referenceAllele": "C",
          "start": 905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NR_102316.1:n.906C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052774"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1124,
          "referenceAllele": "C",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NR_102317.1:n.1124C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052775"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 820,
          "referenceAllele": "C",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_006722721.2:c.743C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006722784.1:p.Pro248="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074704"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 820,
          "referenceAllele": "C",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527899.1:c.743C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526201.1:p.Pro248="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094980"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 820,
          "referenceAllele": "C",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527900.1:c.743C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526202.1:p.Pro248="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094981"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 820,
          "referenceAllele": "C",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527899.2:c.743C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526201.1:p.Pro248="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548874"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 820,
          "referenceAllele": "C",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527900.2:c.743C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526202.1:p.Pro248="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548875"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 820,
          "referenceAllele": "C",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_017026580.1:c.743C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016882069.1:p.Pro248="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576706"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 820,
          "referenceAllele": "C",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_000159.4:c.743C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000150.1:p.Pro248="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662332",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222214.10:c.743C="
          },
          "RefSeq": {
            "hgvs": "NM_000159.4:c.743C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222214.4:p.Pro248="
          },
          "RefSeq": {
            "hgvs": "NP_000150.1:p.Pro248="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3086329835",
      "coordinates": [
        {
          "allele": "C",
          "end": 820,
          "referenceAllele": "C",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_013976.4:c.743C="
      ],
      "proteinEffect": {
        "hgvs": "NP_039663.1:p.Pro248="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3086329835",
      "coordinates": [
        {
          "allele": "C",
          "end": 820,
          "referenceAllele": "C",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_013976.5:c.743C="
      ],
      "proteinEffect": {
        "hgvs": "NP_039663.1:p.Pro248="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727927"
    }
  ],
  "type": "nucleotide"
}