{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4941156",
  "communityStandardTitle": [
    "NM_130849.4(SLC39A4):c.1557C>T (p.Phe519=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=899093[alleleid]",
        "alleleId": 899093,
        "preferredName": "NM_130849.4(SLC39A4):c.1557C>T (p.Phe519=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/908942",
        "RCV": [
          "RCV001159725",
          "RCV001476550"
        ],
        "variationId": 908942
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-145638691-G-A",
        "id": "8-145638691-G-A",
        "variant": "8:145638691 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.145638691G>A?assembly=hg19",
        "id": "chr8:g.145638691G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.144413307G>A?assembly=hg38",
        "id": "chr8:g.144413307G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782606354",
        "rs": 782606354
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-145638691-G-A?dataset=gnomad_r2_1",
        "id": "8-145638691-G-A",
        "variant": "8:145638691 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-144413307-G-A?dataset=gnomad_r3",
        "id": "8-144413307-G-A",
        "variant": "8:144413307 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-144413307-G-A?dataset=gnomad_r4",
        "id": "8-144413307-G-A",
        "variant": "8:144413307 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 144413307,
          "referenceAllele": "G",
          "start": 144413306
        }
      ],
      "hgvs": [
        "NC_000008.11:g.144413307G>A",
        "CM000670.2:g.144413307G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 145638691,
          "referenceAllele": "G",
          "start": 145638690
        }
      ],
      "hgvs": [
        "NC_000008.10:g.145638691G>A",
        "CM000670.1:g.145638691G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 145609499,
          "referenceAllele": "G",
          "start": 145609498
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145609499G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8584,
          "referenceAllele": "C",
          "start": 8583
        }
      ],
      "hgvs": [
        "NG_012234.2:g.8584C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002306"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1612,
          "referenceAllele": "C",
          "start": 1611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "ENST00000301305.8:c.1557C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301305.4:p.Phe519="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744832",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301305.8:c.1557C>T"
          },
          "RefSeq": {
            "hgvs": "NM_130849.4:c.1557C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301305.4:p.Phe519="
          },
          "RefSeq": {
            "hgvs": "NP_570901.3:p.Phe519="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1786,
          "referenceAllele": "C",
          "start": 1785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "ENST00000276833.9:c.1482C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000276833.5:p.Phe494="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252718"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1663,
          "referenceAllele": "C",
          "start": 1662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "ENST00000301305.7:c.1557C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301305.3:p.Phe519="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254990"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 142,
          "referenceAllele": "C",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "ENST00000527148.5:n.142C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352900"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 156,
          "referenceAllele": "C",
          "start": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "ENST00000529462.5:n.156C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354845"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 57,
          "endIntronDirection": "+",
          "endIntronOffset": 206,
          "referenceAllele": "C",
          "start": 57,
          "startIntronDirection": "+",
          "startIntronOffset": 205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "ENST00000530807.5:n.57+206C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS356002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 285,
          "referenceAllele": "C",
          "start": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "ENST00000531013.1:n.285C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS356175"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 157,
          "referenceAllele": "C",
          "start": 156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "ENST00000532718.5:n.157C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357602"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826621373",
      "coordinates": [
        {
          "allele": "T",
          "end": 162,
          "referenceAllele": "C",
          "start": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "NM_001280557.1:c.63C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001267486.1:p.Phe21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021579"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1807,
          "referenceAllele": "C",
          "start": 1806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "NM_017767.2:c.1482C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060237.2:p.Phe494="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035174"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1663,
          "referenceAllele": "C",
          "start": 1662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "NM_130849.3:c.1557C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_570901.2:p.Phe519="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040441"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1559,
          "endIntronDirection": "+",
          "endIntronOffset": 206,
          "referenceAllele": "C",
          "start": 1559,
          "startIntronDirection": "+",
          "startIntronOffset": 205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "XM_006716599.1:c.1474+206C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716662.1:n.1474+206C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071756"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2520,
          "referenceAllele": "C",
          "start": 2519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "XM_011517153.1:c.1275C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515455.1:p.Phe425="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1631,
          "referenceAllele": "C",
          "start": 1630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "XM_024447188.1:c.1275C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302956.1:p.Phe425="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580782"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1549,
          "endIntronDirection": "+",
          "endIntronOffset": 206,
          "referenceAllele": "C",
          "start": 1549,
          "startIntronDirection": "+",
          "startIntronOffset": 205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "XM_024447189.1:c.1192+206C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302957.1:n.1192+206C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580783"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826621373",
      "coordinates": [
        {
          "allele": "T",
          "end": 156,
          "referenceAllele": "C",
          "start": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "NM_001280557.2:c.63C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001267486.1:p.Phe21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681615"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828556101",
      "coordinates": [
        {
          "allele": "T",
          "end": 1330,
          "referenceAllele": "C",
          "start": 1329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "NM_001374839.1:c.1275C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361768.1:p.Phe425="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693392"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829880756",
      "coordinates": [
        {
          "allele": "T",
          "end": 1723,
          "referenceAllele": "C",
          "start": 1722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "NM_017767.3:c.1482C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060237.3:p.Phe494="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697870"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830186214",
      "coordinates": [
        {
          "allele": "T",
          "end": 1612,
          "referenceAllele": "C",
          "start": 1611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "NM_130849.4:c.1557C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_570901.3:p.Phe519="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699622",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301305.8:c.1557C>T"
          },
          "RefSeq": {
            "hgvs": "NM_130849.4:c.1557C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301305.4:p.Phe519="
          },
          "RefSeq": {
            "hgvs": "NP_570901.3:p.Phe519="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}