{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA12991068",
  "communityStandardTitle": [
    "NM_016548.4(GOLM1):c.-21-5804C>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.88700060G>T?assembly=hg19",
        "id": "chr9:g.88700060G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.86085145G>T?assembly=hg38",
        "id": "chr9:g.86085145G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10868366",
        "rs": 10868366
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-88700060-G-T?dataset=gnomad_r2_1",
        "id": "9-88700060-G-T",
        "variant": "9:88700060 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-86085145-G-T?dataset=gnomad_r3",
        "id": "9-86085145-G-T",
        "variant": "9:86085145 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-86085145-G-T?dataset=gnomad_r4",
        "id": "9-86085145-G-T",
        "variant": "9:86085145 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 86085145,
          "referenceAllele": "G",
          "start": 86085144
        }
      ],
      "hgvs": [
        "NC_000009.12:g.86085145G>T",
        "CM000671.2:g.86085145G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 88700060,
          "referenceAllele": "G",
          "start": 88700059
        }
      ],
      "hgvs": [
        "NC_000009.11:g.88700060G>T",
        "CM000671.1:g.88700060G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 87889880,
          "referenceAllele": "G",
          "start": 87889879
        }
      ],
      "hgvs": [
        "NC_000009.10:g.87889880G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 125,
          "endIntronDirection": "-",
          "endIntronOffset": 5803,
          "referenceAllele": "C",
          "start": 125,
          "startIntronDirection": "-",
          "startIntronOffset": 5804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015451",
      "geneNCBI_id": 51280,
      "geneSymbol": "GOLM1",
      "hgvs": [
        "ENST00000388711.7:c.-21-5804C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373363.3:n.-21-5804C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274057"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 5803,
          "referenceAllele": "C",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 5804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015451",
      "geneNCBI_id": 51280,
      "geneSymbol": "GOLM1",
      "hgvs": [
        "ENST00000388712.7:c.-21-5804C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373364.3:n.-21-5804C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274058",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000388712.7:c.-21-5804C>A"
          },
          "RefSeq": {
            "hgvs": "NM_016548.4:c.-21-5804C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373364.3:n.-21-5804C>A"
          },
          "RefSeq": {
            "hgvs": "NP_057632.2:n.-21-5804C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 125,
          "endIntronDirection": "-",
          "endIntronOffset": 105,
          "referenceAllele": "C",
          "start": 125,
          "startIntronDirection": "-",
          "startIntronOffset": 106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015451",
      "geneNCBI_id": 51280,
      "geneSymbol": "GOLM1",
      "hgvs": [
        "ENST00000466178.1:c.-141-106C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418155.1:n.-141-106C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS309614"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 149,
          "endIntronDirection": "-",
          "endIntronOffset": 5803,
          "referenceAllele": "C",
          "start": 149,
          "startIntronDirection": "-",
          "startIntronOffset": 5804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015451",
      "geneNCBI_id": 51280,
      "geneSymbol": "GOLM1",
      "hgvs": [
        "ENST00000472919.1:n.150-5804C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314787"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 185,
          "endIntronDirection": "-",
          "endIntronOffset": 5803,
          "referenceAllele": "C",
          "start": 185,
          "startIntronDirection": "-",
          "startIntronOffset": 5804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015451",
      "geneNCBI_id": 51280,
      "geneSymbol": "GOLM1",
      "hgvs": [
        "NM_016548.3:c.-21-5804C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057632.2:n.-21-5804C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034778"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 177,
          "endIntronDirection": "-",
          "endIntronOffset": 5803,
          "referenceAllele": "C",
          "start": 177,
          "startIntronDirection": "-",
          "startIntronOffset": 5804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015451",
      "geneNCBI_id": 51280,
      "geneSymbol": "GOLM1",
      "hgvs": [
        "NM_177937.2:c.-21-5804C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_808800.1:n.-21-5804C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043386"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 5803,
          "referenceAllele": "C",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 5804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015451",
      "geneNCBI_id": 51280,
      "geneSymbol": "GOLM1",
      "hgvs": [
        "NM_016548.4:c.-21-5804C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057632.2:n.-21-5804C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669178",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000388712.7:c.-21-5804C>A"
          },
          "RefSeq": {
            "hgvs": "NM_016548.4:c.-21-5804C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373364.3:n.-21-5804C>A"
          },
          "RefSeq": {
            "hgvs": "NP_057632.2:n.-21-5804C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 125,
          "endIntronDirection": "-",
          "endIntronOffset": 5803,
          "referenceAllele": "C",
          "start": 125,
          "startIntronDirection": "-",
          "startIntronOffset": 5804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015451",
      "geneNCBI_id": 51280,
      "geneSymbol": "GOLM1",
      "hgvs": [
        "NM_177937.3:c.-21-5804C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_808800.1:n.-21-5804C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729659"
    }
  ],
  "type": "nucleotide"
}