{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA14615900",
  "communityStandardTitle": [
    "NM_001480.4(GALR1):c.732+148T>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.74968327T>C?assembly=hg19",
        "id": "chr18:g.74968327T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.77256371T>C?assembly=hg38",
        "id": "chr18:g.77256371T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2717162",
        "rs": 2717162
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-74968327-T-C?dataset=gnomad_r2_1",
        "id": "18-74968327-T-C",
        "variant": "18:74968327 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-77256371-T-C?dataset=gnomad_r3",
        "id": "18-77256371-T-C",
        "variant": "18:77256371 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-77256371-T-C?dataset=gnomad_r4",
        "id": "18-77256371-T-C",
        "variant": "18:77256371 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 77256371,
          "referenceAllele": "T",
          "start": 77256370
        }
      ],
      "hgvs": [
        "NC_000018.10:g.77256371T>C",
        "CM000680.2:g.77256371T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 74968327,
          "referenceAllele": "T",
          "start": 74968326
        }
      ],
      "hgvs": [
        "NC_000018.9:g.74968327T>C",
        "CM000680.1:g.74968327T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 73097315,
          "referenceAllele": "T",
          "start": 73097314
        }
      ],
      "hgvs": [
        "NC_000018.8:g.73097315T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11320,
          "referenceAllele": "T",
          "start": 11319
        }
      ],
      "hgvs": [
        "NG_009223.1:g.11320T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001493"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1433,
          "endIntronDirection": "+",
          "endIntronOffset": 148,
          "referenceAllele": "T",
          "start": 1433,
          "startIntronDirection": "+",
          "startIntronOffset": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004132",
      "geneNCBI_id": 2587,
      "geneSymbol": "GALR1",
      "hgvs": [
        "ENST00000299727.5:c.732+148T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299727.3:n.732+148T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744703",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299727.5:c.732+148T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001480.4:c.732+148T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299727.3:n.732+148T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001471.2:n.732+148T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 732,
          "endIntronDirection": "+",
          "endIntronOffset": 148,
          "referenceAllele": "T",
          "start": 732,
          "startIntronDirection": "+",
          "startIntronOffset": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004132",
      "geneNCBI_id": 2587,
      "geneSymbol": "GALR1",
      "hgvs": [
        "ENST00000299727.4:c.732+148T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299727.3:n.732+148T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254775"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1229,
          "endIntronDirection": "+",
          "endIntronOffset": 148,
          "referenceAllele": "T",
          "start": 1229,
          "startIntronDirection": "+",
          "startIntronOffset": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004132",
      "geneNCBI_id": 2587,
      "geneSymbol": "GALR1",
      "hgvs": [
        "NM_001480.3:c.732+148T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001471.2:n.732+148T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026853"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1229,
          "endIntronDirection": "+",
          "endIntronOffset": 148,
          "referenceAllele": "T",
          "start": 1229,
          "startIntronDirection": "+",
          "startIntronOffset": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004132",
      "geneNCBI_id": 2587,
      "geneSymbol": "GALR1",
      "hgvs": [
        "XM_017025691.1:c.732+148T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881180.1:n.732+148T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575993"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1433,
          "endIntronDirection": "+",
          "endIntronOffset": 148,
          "referenceAllele": "T",
          "start": 1433,
          "startIntronDirection": "+",
          "startIntronOffset": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004132",
      "geneNCBI_id": 2587,
      "geneSymbol": "GALR1",
      "hgvs": [
        "NM_001480.4:c.732+148T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001471.2:n.732+148T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695305",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299727.5:c.732+148T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001480.4:c.732+148T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299727.3:n.732+148T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001471.2:n.732+148T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}