{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9234204",
  "communityStandardTitle": [
    "NM_000159.4(GCDH):c.92-7C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1127581[alleleid]",
        "alleleId": 1127581,
        "preferredName": "NM_000159.4(GCDH):c.92-7C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1132227",
        "RCV": [
          "RCV001466399",
          "RCV001726562"
        ],
        "variationId": 1132227
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-13002294-C-T",
        "id": "19-13002294-C-T",
        "variant": "19:13002294 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.13002294C>T?assembly=hg19",
        "id": "chr19:g.13002294C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.12891480C>T?assembly=hg38",
        "id": "chr19:g.12891480C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/538220975",
        "rs": 538220975
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-13002294-C-T?dataset=gnomad_r2_1",
        "id": "19-13002294-C-T",
        "variant": "19:13002294 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-12891480-C-T?dataset=gnomad_r3",
        "id": "19-12891480-C-T",
        "variant": "19:12891480 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-12891480-C-T?dataset=gnomad_r4",
        "id": "19-12891480-C-T",
        "variant": "19:12891480 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 12891480,
          "referenceAllele": "C",
          "start": 12891479
        }
      ],
      "hgvs": [
        "NC_000019.10:g.12891480C>T",
        "CM000681.2:g.12891480C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 13002294,
          "referenceAllele": "C",
          "start": 13002293
        }
      ],
      "hgvs": [
        "NC_000019.9:g.13002294C>T",
        "CM000681.1:g.13002294C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 12863294,
          "referenceAllele": "C",
          "start": 12863293
        }
      ],
      "hgvs": [
        "NC_000019.8:g.12863294C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5321,
          "referenceAllele": "C",
          "start": 5320
        }
      ],
      "hgvs": [
        "NG_009292.1:g.5321C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001548"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 724,
          "referenceAllele": "G",
          "start": 723
        }
      ],
      "hgvs": [
        "NG_013087.1:g.724G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002710"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 168,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 168,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000222214.10:c.92-7C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222214.4:n.92-7C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740551",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222214.10:c.92-7C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000159.4:c.92-7C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222214.4:n.92-7C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000150.1:n.92-7C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 302,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 302,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000222214.9:c.92-7C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222214.4:n.92-7C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248350"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 168,
          "endIntronDirection": "+",
          "endIntronOffset": 85,
          "referenceAllele": "C",
          "start": 168,
          "startIntronDirection": "+",
          "startIntronOffset": 84
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000421816.6:n.168+85C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS286984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000585420.5:n.149-7C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388707"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 127,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 127,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000585760.5:n.128-7C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388938"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 151,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 151,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000587072.1:c.92-7C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468584.1:n.92-7C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000587832.5:n.149-7C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS390355"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 160,
          "endIntronDirection": "+",
          "endIntronOffset": 85,
          "referenceAllele": "C",
          "start": 160,
          "startIntronDirection": "+",
          "startIntronOffset": 84
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000588905.5:c.91+85C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465770.1:n.91+85C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391110"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 168,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 168,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000589039.5:c.92-7C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465618.1:n.92-7C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391208"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 164,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 164,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000590445.5:c.92-7C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468125.1:n.92-7C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 162,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 162,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000590530.5:c.92-7C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468452.1:n.92-7C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392249"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000590627.5:n.149-7C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 127,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 127,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000591043.1:n.128-7C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392611"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 236,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 236,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000591470.5:c.92-7C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466845.1:n.92-7C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 199,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 199,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_000159.3:c.92-7C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000150.1:n.92-7C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006221"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 199,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 199,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_013976.3:c.92-7C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_039663.1:n.92-7C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032843"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 199,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 199,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NR_102316.1:n.200-7C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052774"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 199,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 199,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NR_102317.1:n.200-7C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052775"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 168,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 168,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_006722721.2:c.92-7C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722784.1:n.92-7C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074704"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 168,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 168,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527899.1:c.92-7C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526201.1:n.92-7C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 168,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 168,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527900.1:c.92-7C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526202.1:n.92-7C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094981"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 168,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 168,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527899.2:c.92-7C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526201.1:n.92-7C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 168,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 168,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527900.2:c.92-7C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526202.1:n.92-7C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548875"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 168,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 168,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_017026580.1:c.92-7C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882069.1:n.92-7C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576706"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 168,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 168,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_000159.4:c.92-7C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000150.1:n.92-7C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662332",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222214.10:c.92-7C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000159.4:c.92-7C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222214.4:n.92-7C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000150.1:n.92-7C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 168,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 168,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_013976.4:c.92-7C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_039663.1:n.92-7C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697153"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 168,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 168,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_013976.5:c.92-7C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_039663.1:n.92-7C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727927"
    }
  ],
  "type": "nucleotide"
}