{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA12024141",
  "communityStandardTitle": [
    "NM_016180.5(SLC45A2):c.563-5507A>G"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.33969628T>C?assembly=hg19",
        "id": "chr5:g.33969628T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.33969523T>C?assembly=hg38",
        "id": "chr5:g.33969523T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/35414",
        "rs": 35414
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-33969628-T-C?dataset=gnomad_r2_1",
        "id": "5-33969628-T-C",
        "variant": "5:33969628 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-33969523-T-C?dataset=gnomad_r3",
        "id": "5-33969523-T-C",
        "variant": "5:33969523 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-33969523-T-C?dataset=gnomad_r4",
        "id": "5-33969523-T-C",
        "variant": "5:33969523 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 33969523,
          "referenceAllele": "T",
          "start": 33969522
        }
      ],
      "hgvs": [
        "NC_000005.10:g.33969523T>C",
        "CM000667.2:g.33969523T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 33969628,
          "referenceAllele": "T",
          "start": 33969627
        }
      ],
      "hgvs": [
        "NC_000005.9:g.33969628T>C",
        "CM000667.1:g.33969628T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 34005385,
          "referenceAllele": "T",
          "start": 34005384
        }
      ],
      "hgvs": [
        "NC_000005.8:g.34005385T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 20153,
          "referenceAllele": "A",
          "start": 20152
        }
      ],
      "hgvs": [
        "NG_011691.2:g.20153A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001902"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 672,
          "endIntronDirection": "-",
          "endIntronOffset": 5506,
          "referenceAllele": "A",
          "start": 672,
          "startIntronDirection": "-",
          "startIntronOffset": 5507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "ENST00000296589.9:c.563-5507A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296589.4:n.563-5507A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744445",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000296589.9:c.563-5507A>G"
          },
          "RefSeq": {
            "hgvs": "NM_016180.5:c.563-5507A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296589.4:n.563-5507A>G"
          },
          "RefSeq": {
            "hgvs": "NP_057264.4:n.563-5507A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 709,
          "endIntronDirection": "-",
          "endIntronOffset": 5506,
          "referenceAllele": "A",
          "start": 709,
          "startIntronDirection": "-",
          "startIntronOffset": 5507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "ENST00000296589.8:c.563-5507A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296589.4:n.563-5507A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254343"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 620,
          "endIntronDirection": "-",
          "endIntronOffset": 5506,
          "referenceAllele": "A",
          "start": 620,
          "startIntronDirection": "-",
          "startIntronOffset": 5507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "ENST00000382102.7:c.563-5507A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371534.3:n.563-5507A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273621"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 364,
          "endIntronDirection": "-",
          "endIntronOffset": 5506,
          "referenceAllele": "A",
          "start": 364,
          "startIntronDirection": "-",
          "startIntronOffset": 5507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "ENST00000505056.1:n.365-5507A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS336941"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 623,
          "endIntronDirection": "+",
          "endIntronOffset": 12713,
          "referenceAllele": "A",
          "start": 623,
          "startIntronDirection": "+",
          "startIntronOffset": 12712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "ENST00000509381.1:c.562+12713A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421100.1:n.562+12713A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340158"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 39,
          "endIntronDirection": "-",
          "endIntronOffset": 5506,
          "referenceAllele": "A",
          "start": 39,
          "startIntronDirection": "-",
          "startIntronOffset": 5507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "ENST00000510600.1:c.38-5507A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424010.1:n.38-5507A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341065"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 654,
          "endIntronDirection": "-",
          "endIntronOffset": 5506,
          "referenceAllele": "A",
          "start": 654,
          "startIntronDirection": "-",
          "startIntronOffset": 5507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "NM_001012509.3:c.563-5507A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001012527.1:n.563-5507A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008320"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 654,
          "endIntronDirection": "+",
          "endIntronOffset": 12713,
          "referenceAllele": "A",
          "start": 654,
          "startIntronDirection": "+",
          "startIntronOffset": 12712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "NM_001297417.2:c.562+12713A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001284346.2:n.562+12713A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024591"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 654,
          "endIntronDirection": "-",
          "endIntronOffset": 5506,
          "referenceAllele": "A",
          "start": 654,
          "startIntronDirection": "-",
          "startIntronOffset": 5507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "NM_016180.4:c.563-5507A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_057264.3:n.563-5507A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034502"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 320,
          "endIntronDirection": "-",
          "endIntronOffset": 5506,
          "referenceAllele": "A",
          "start": 320,
          "startIntronDirection": "-",
          "startIntronOffset": 5507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "XM_011514051.1:c.161-5507A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512353.1:n.161-5507A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081277"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1123,
          "endIntronDirection": "-",
          "endIntronOffset": 5506,
          "referenceAllele": "A",
          "start": 1123,
          "startIntronDirection": "-",
          "startIntronOffset": 5507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "XM_011514052.1:c.563-5507A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512354.1:n.563-5507A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081278"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1379,
          "endIntronDirection": "-",
          "endIntronOffset": 5506,
          "referenceAllele": "A",
          "start": 1379,
          "startIntronDirection": "-",
          "startIntronOffset": 5507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "XR_925620.1:n.1380-5507A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122430"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 672,
          "endIntronDirection": "-",
          "endIntronOffset": 5506,
          "referenceAllele": "A",
          "start": 672,
          "startIntronDirection": "-",
          "startIntronOffset": 5507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "NM_016180.5:c.563-5507A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_057264.4:n.563-5507A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669022",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000296589.9:c.563-5507A>G"
          },
          "RefSeq": {
            "hgvs": "NM_016180.5:c.563-5507A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296589.4:n.563-5507A>G"
          },
          "RefSeq": {
            "hgvs": "NP_057264.4:n.563-5507A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 672,
          "endIntronDirection": "-",
          "endIntronOffset": 5506,
          "referenceAllele": "A",
          "start": 672,
          "startIntronDirection": "-",
          "startIntronOffset": 5507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "NM_001012509.4:c.563-5507A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001012527.2:n.563-5507A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675428"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 672,
          "endIntronDirection": "+",
          "endIntronOffset": 12713,
          "referenceAllele": "A",
          "start": 672,
          "startIntronDirection": "+",
          "startIntronOffset": 12712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "NM_001297417.3:c.562+12713A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001284346.2:n.562+12713A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683029"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 672,
          "endIntronDirection": "+",
          "endIntronOffset": 12713,
          "referenceAllele": "A",
          "start": 672,
          "startIntronDirection": "+",
          "startIntronOffset": 12712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "NM_001297417.4:c.562+12713A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001284346.2:n.562+12713A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716778"
    }
  ],
  "type": "nucleotide"
}