{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA14177449",
  "communityStandardTitle": [
    "NM_205850.3(SLC24A5):c.301+5153C>G"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48419386C>G?assembly=hg19",
        "id": "chr15:g.48419386C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48127189C>G?assembly=hg38",
        "id": "chr15:g.48127189C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2555364",
        "rs": 2555364
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-48419386-C-G?dataset=gnomad_r2_1",
        "id": "15-48419386-C-G",
        "variant": "15:48419386 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-48127189-C-G?dataset=gnomad_r3",
        "id": "15-48127189-C-G",
        "variant": "15:48127189 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-48127189-C-G?dataset=gnomad_r4",
        "id": "15-48127189-C-G",
        "variant": "15:48127189 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 48127189,
          "referenceAllele": "C",
          "start": 48127188
        }
      ],
      "hgvs": [
        "NC_000015.10:g.48127189C>G",
        "CM000677.2:g.48127189C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 48419386,
          "referenceAllele": "C",
          "start": 48419385
        }
      ],
      "hgvs": [
        "NC_000015.9:g.48419386C>G",
        "CM000677.1:g.48419386C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 46206678,
          "referenceAllele": "C",
          "start": 46206677
        }
      ],
      "hgvs": [
        "NC_000015.8:g.46206678C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11218,
          "referenceAllele": "C",
          "start": 11217
        }
      ],
      "hgvs": [
        "NG_011500.1:g.11218C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001768"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 356,
          "endIntronDirection": "+",
          "endIntronOffset": 5153,
          "referenceAllele": "C",
          "start": 356,
          "startIntronDirection": "+",
          "startIntronOffset": 5152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020611",
      "geneNCBI_id": 283652,
      "geneSymbol": "SLC24A5",
      "hgvs": [
        "ENST00000341459.8:c.301+5153C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341550.3:n.301+5153C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747993",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341459.8:c.301+5153C>G"
          },
          "RefSeq": {
            "hgvs": "NM_205850.3:c.301+5153C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341550.3:n.301+5153C>G"
          },
          "RefSeq": {
            "hgvs": "NP_995322.1:n.301+5153C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 374,
          "endIntronDirection": "+",
          "endIntronOffset": 5153,
          "referenceAllele": "C",
          "start": 374,
          "startIntronDirection": "+",
          "startIntronOffset": 5152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020611",
      "geneNCBI_id": 283652,
      "geneSymbol": "SLC24A5",
      "hgvs": [
        "ENST00000341459.7:c.301+5153C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341550.3:n.301+5153C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261338"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 142,
          "endIntronDirection": "+",
          "endIntronOffset": 6024,
          "referenceAllele": "C",
          "start": 142,
          "startIntronDirection": "+",
          "startIntronOffset": 6023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020611",
      "geneNCBI_id": 283652,
      "geneSymbol": "SLC24A5",
      "hgvs": [
        "ENST00000449382.2:c.121+6024C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389966.2:n.121+6024C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300197"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 61,
          "endIntronDirection": "+",
          "endIntronOffset": 5153,
          "referenceAllele": "C",
          "start": 61,
          "startIntronDirection": "+",
          "startIntronOffset": 5152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020611",
      "geneNCBI_id": 283652,
      "geneSymbol": "SLC24A5",
      "hgvs": [
        "ENST00000463289.1:n.61+5153C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307357"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 374,
          "endIntronDirection": "+",
          "endIntronOffset": 5153,
          "referenceAllele": "C",
          "start": 374,
          "startIntronDirection": "+",
          "startIntronOffset": 5152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020611",
      "geneNCBI_id": 283652,
      "geneSymbol": "SLC24A5",
      "hgvs": [
        "NM_205850.2:c.301+5153C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_995322.1:n.301+5153C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045260"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 335,
          "endIntronDirection": "+",
          "endIntronOffset": 5153,
          "referenceAllele": "C",
          "start": 335,
          "startIntronDirection": "+",
          "startIntronOffset": 5152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020611",
      "geneNCBI_id": 283652,
      "geneSymbol": "SLC24A5",
      "hgvs": [
        "XM_011521458.1:c.301+5153C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519760.1:n.301+5153C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088619"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1158,
          "referenceAllele": "C",
          "start": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020611",
      "geneNCBI_id": 283652,
      "geneSymbol": "SLC24A5",
      "hgvs": [
        "XM_017022079.1:c.-263C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877568.1:n.-263C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573128"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1294,
          "referenceAllele": "C",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020611",
      "geneNCBI_id": 283652,
      "geneSymbol": "SLC24A5",
      "hgvs": [
        "XM_017022080.1:c.-347C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877569.1:n.-347C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573129"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1292,
          "referenceAllele": "C",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020611",
      "geneNCBI_id": 283652,
      "geneSymbol": "SLC24A5",
      "hgvs": [
        "XM_024449901.1:c.-263C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305669.1:n.-263C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583443"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 356,
          "endIntronDirection": "+",
          "endIntronOffset": 5153,
          "referenceAllele": "C",
          "start": 356,
          "startIntronDirection": "+",
          "startIntronOffset": 5152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020611",
      "geneNCBI_id": 283652,
      "geneSymbol": "SLC24A5",
      "hgvs": [
        "NM_205850.3:c.301+5153C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_995322.1:n.301+5153C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701665",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341459.8:c.301+5153C>G"
          },
          "RefSeq": {
            "hgvs": "NM_205850.3:c.301+5153C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341550.3:n.301+5153C>G"
          },
          "RefSeq": {
            "hgvs": "NP_995322.1:n.301+5153C>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}