{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA359396670",
  "communityStandardTitle": [
    "NM_016180.5(SLC45A2):c.469G>C (p.Asp157His)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.33982434C>G?assembly=hg19",
        "id": "chr5:g.33982434C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.33982329C>G?assembly=hg38",
        "id": "chr5:g.33982329C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912621",
        "rs": 121912621
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-33982329-C-G?dataset=gnomad_r4",
        "id": "5-33982329-C-G",
        "variant": "5:33982329 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 33982329,
          "referenceAllele": "C",
          "start": 33982328
        }
      ],
      "hgvs": [
        "NC_000005.10:g.33982329C>G",
        "CM000667.2:g.33982329C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 33982434,
          "referenceAllele": "C",
          "start": 33982433
        }
      ],
      "hgvs": [
        "NC_000005.9:g.33982434C>G",
        "CM000667.1:g.33982434C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 34018191,
          "referenceAllele": "C",
          "start": 34018190
        }
      ],
      "hgvs": [
        "NC_000005.8:g.34018191C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7347,
          "referenceAllele": "G",
          "start": 7346
        }
      ],
      "hgvs": [
        "NG_011691.2:g.7347G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001902"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 579,
          "referenceAllele": "G",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "ENST00000296589.9:c.469G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296589.4:p.Asp157His",
        "hgvsWellDefined": "ENSP00000296589.4:p.Asp157His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744445",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000296589.9:c.469G>C"
          },
          "RefSeq": {
            "hgvs": "NM_016180.5:c.469G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296589.4:p.Asp157His"
          },
          "RefSeq": {
            "hgvs": "NP_057264.4:p.Asp157His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 616,
          "referenceAllele": "G",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "ENST00000296589.8:c.469G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296589.4:p.Asp157His",
        "hgvsWellDefined": "ENSP00000296589.4:p.Asp157His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254343"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 527,
          "referenceAllele": "G",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "ENST00000382102.7:c.469G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371534.3:p.Asp157His",
        "hgvsWellDefined": "ENSP00000371534.3:p.Asp157His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273621"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 364,
          "endIntronDirection": "+",
          "endIntronOffset": 1870,
          "referenceAllele": "G",
          "start": 364,
          "startIntronDirection": "+",
          "startIntronOffset": 1869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "ENST00000505056.1:n.364+1870G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS336941"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 530,
          "referenceAllele": "G",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "ENST00000509381.1:c.469G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421100.1:p.Asp157His",
        "hgvsWellDefined": "ENSP00000421100.1:p.Asp157His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340158"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 39,
          "endIntronDirection": "+",
          "endIntronOffset": 1870,
          "referenceAllele": "G",
          "start": 39,
          "startIntronDirection": "+",
          "startIntronOffset": 1869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "ENST00000510600.1:c.37+1870G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424010.1:n.37+1870G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341065"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 561,
          "referenceAllele": "G",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "NM_001012509.3:c.469G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001012527.1:p.Asp157His",
        "hgvsWellDefined": "NP_001012527.1:p.Asp157His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008320"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 561,
          "referenceAllele": "G",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "NM_001297417.2:c.469G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001284346.2:p.Asp157His",
        "hgvsWellDefined": "NP_001284346.2:p.Asp157His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024591"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 561,
          "referenceAllele": "G",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "NM_016180.4:c.469G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_057264.3:p.Asp157His",
        "hgvsWellDefined": "NP_057264.3:p.Asp157His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034502"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1030,
          "referenceAllele": "G",
          "start": 1029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "XM_011514052.1:c.469G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512354.1:p.Asp157His",
        "hgvsWellDefined": "XP_011512354.1:p.Asp157His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081278"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1030,
          "referenceAllele": "G",
          "start": 1029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "XR_925620.1:n.1030G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122430"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070948525",
      "coordinates": [
        {
          "allele": "C",
          "end": 579,
          "referenceAllele": "G",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "NM_016180.5:c.469G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_057264.4:p.Asp157His",
        "hgvsWellDefined": "NP_057264.4:p.Asp157His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669022",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000296589.9:c.469G>C"
          },
          "RefSeq": {
            "hgvs": "NM_016180.5:c.469G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296589.4:p.Asp157His"
          },
          "RefSeq": {
            "hgvs": "NP_057264.4:p.Asp157His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 579,
          "referenceAllele": "G",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "NM_001012509.4:c.469G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001012527.2:p.Asp157His",
        "hgvsWellDefined": "NP_001012527.2:p.Asp157His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675428"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 579,
          "referenceAllele": "G",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "NM_001297417.3:c.469G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001284346.2:p.Asp157His",
        "hgvsWellDefined": "NP_001284346.2:p.Asp157His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683029"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 579,
          "referenceAllele": "G",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016472",
      "geneNCBI_id": 51151,
      "geneSymbol": "SLC45A2",
      "hgvs": [
        "NM_001297417.4:c.469G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001284346.2:p.Asp157His",
        "hgvsWellDefined": "NP_001284346.2:p.Asp157His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716778"
    }
  ],
  "type": "nucleotide"
}