{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA253174",
  "communityStandardTitle": [
    "NM_016180.5(SLC45A2):c.563-1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19537[alleleid]",
        "alleleId": 19537,
        "preferredName": "NM_016180.5(SLC45A2):c.563-1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4498",
        "RCV": [
          "RCV000004756"
        ],
        "variationId": 4498
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.33964122C>T?assembly=hg19",
        "id": "chr5:g.33964122C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.33964017C>T?assembly=hg38",
        "id": "chr5:g.33964017C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/730880270",
        "rs": 730880270
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 33964017,
          "referenceAllele": "C",
          "start": 33964016
        }
      ],
      "hgvs": [
        "NC_000005.10:g.33964017C>T",
        "CM000667.2:g.33964017C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 33964122,
          "referenceAllele": "C",
          "start": 33964121
        }
      ],
      "hgvs": [
        "NC_000005.9:g.33964122C>T",
        "CM000667.1:g.33964122C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 33999879,
          "referenceAllele": "C",
          "start": 33999878
        }
      ],
      "hgvs": [
        "NC_000005.8:g.33999879C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25659,
          "referenceAllele": "G",
          "start": 25658
        }
      ],
      "hgvs": [
        "NG_011691.2:g.25659G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001902"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 672,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 672,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "ENST00000296589.9:c.563-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296589.4:n.563-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744445",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000296589.9:c.563-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_016180.5:c.563-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296589.4:n.563-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_057264.4:n.563-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 709,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 709,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "ENST00000296589.8:c.563-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296589.4:n.563-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254343"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 620,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 620,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "ENST00000382102.7:c.563-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371534.3:n.563-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273621"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 364,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 364,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "ENST00000505056.1:n.365-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS336941"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 623,
          "endIntronDirection": "-",
          "endIntronOffset": 9512,
          "referenceAllele": "G",
          "start": 623,
          "startIntronDirection": "-",
          "startIntronOffset": 9513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "ENST00000509381.1:c.563-9513G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421100.1:n.563-9513G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 39,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 39,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "ENST00000510600.1:c.38-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424010.1:n.38-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341065"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 654,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 654,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "NM_001012509.3:c.563-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001012527.1:n.563-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 654,
          "endIntronDirection": "-",
          "endIntronOffset": 9512,
          "referenceAllele": "G",
          "start": 654,
          "startIntronDirection": "-",
          "startIntronOffset": 9513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "NM_001297417.2:c.563-9513G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001284346.2:n.563-9513G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024591"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 654,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 654,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "NM_016180.4:c.563-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057264.3:n.563-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034502"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 320,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 320,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "XM_011514051.1:c.161-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512353.1:n.161-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081277"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1123,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1123,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "XM_011514052.1:c.563-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512354.1:n.563-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081278"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1379,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1379,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "XR_925620.1:n.1380-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122430"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 672,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 672,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "NM_016180.5:c.563-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057264.4:n.563-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669022",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000296589.9:c.563-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_016180.5:c.563-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296589.4:n.563-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_057264.4:n.563-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 672,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 672,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "NM_001012509.4:c.563-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001012527.2:n.563-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675428"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 672,
          "endIntronDirection": "-",
          "endIntronOffset": 9512,
          "referenceAllele": "G",
          "start": 672,
          "startIntronDirection": "-",
          "startIntronOffset": 9513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "NM_001297417.3:c.563-9513G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001284346.2:n.563-9513G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683029"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 672,
          "endIntronDirection": "-",
          "endIntronOffset": 9512,
          "referenceAllele": "G",
          "start": 672,
          "startIntronDirection": "-",
          "startIntronOffset": 9513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "NM_001297417.4:c.563-9513G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001284346.2:n.563-9513G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716778"
    }
  ],
  "type": "nucleotide"
}