{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA224380",
  "communityStandardTitle": [
    "NM_001291867.2(NHS):c.765C>G (p.Pro255=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=102538[alleleid]",
        "alleleId": 102538,
        "preferredName": "NM_001291867.2(NHS):c.765C>G (p.Pro255=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/96645",
        "RCV": [
          "RCV000082807",
          "RCV001089186",
          "RCV002390248"
        ],
        "variationId": 96645
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-17710501-C-G",
        "id": "X-17710501-C-G",
        "variant": "X:17710501 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.17710501C>G?assembly=hg19",
        "id": "chrX:g.17710501C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.17692381C>G?assembly=hg38",
        "id": "chrX:g.17692381C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/143119491",
        "rs": 143119491
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-17710501-C-G?dataset=gnomad_r2_1",
        "id": "X-17710501-C-G",
        "variant": "X:17710501 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-17692381-C-G?dataset=gnomad_r3",
        "id": "X-17692381-C-G",
        "variant": "X:17692381 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-17692381-C-G?dataset=gnomad_r4",
        "id": "X-17692381-C-G",
        "variant": "X:17692381 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 17692381,
          "referenceAllele": "C",
          "start": 17692380
        }
      ],
      "hgvs": [
        "NC_000023.11:g.17692381C>G",
        "CM000685.2:g.17692381C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 17710501,
          "referenceAllele": "C",
          "start": 17710500
        }
      ],
      "hgvs": [
        "NC_000023.10:g.17710501C>G",
        "CM000685.1:g.17710501C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 17620422,
          "referenceAllele": "C",
          "start": 17620421
        }
      ],
      "hgvs": [
        "NC_000023.9:g.17620422C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 321962,
          "referenceAllele": "C",
          "start": 321961
        }
      ],
      "hgvs": [
        "NG_011553.2:g.321962C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001812"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1160,
          "referenceAllele": "C",
          "start": 1159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "ENST00000615422.2:n.1160C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826476"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1323,
          "referenceAllele": "C",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "ENST00000676302.1:c.765C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502262.1:p.Pro255="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776002",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000676302.1:c.765C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001291867.2:c.765C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000502262.1:p.Pro255="
          },
          "RefSeq": {
            "hgvs": "NP_001278796.1:p.Pro255="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1103,
          "referenceAllele": "C",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "ENST00000380060.7:c.765C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369400.3:p.Pro255="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272764"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 508,
          "referenceAllele": "C",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "ENST00000398097.7:c.234C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381170.3:p.Pro78="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278131"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1155,
          "referenceAllele": "C",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "ENST00000615422.1:c.225C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480113.1:p.Pro75="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402611"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 508,
          "referenceAllele": "C",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "ENST00000617601.4:c.216C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478433.1:p.Pro72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403552"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825809171",
      "coordinates": [
        {
          "allele": "G",
          "end": 508,
          "referenceAllele": "C",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_001136024.3:c.234C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129496.1:p.Pro78="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012570"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826811786",
      "coordinates": [
        {
          "allele": "G",
          "end": 1103,
          "referenceAllele": "C",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_001291867.1:c.765C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278796.1:p.Pro255="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826811926",
      "coordinates": [
        {
          "allele": "G",
          "end": 508,
          "referenceAllele": "C",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_001291868.1:c.234C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278797.1:p.Pro78="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024351"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830439143",
      "coordinates": [
        {
          "allele": "G",
          "end": 1103,
          "referenceAllele": "C",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_198270.3:c.765C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_938011.1:p.Pro255="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044499"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825809171",
      "coordinates": [
        {
          "allele": "G",
          "end": 301,
          "referenceAllele": "C",
          "start": 300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_001136024.4:c.234C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129496.1:p.Pro78="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677381"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826811786",
      "coordinates": [
        {
          "allele": "G",
          "end": 1323,
          "referenceAllele": "C",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_001291867.2:c.765C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278796.1:p.Pro255="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682887",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000676302.1:c.765C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001291867.2:c.765C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000502262.1:p.Pro255="
          },
          "RefSeq": {
            "hgvs": "NP_001278796.1:p.Pro255="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826811926",
      "coordinates": [
        {
          "allele": "G",
          "end": 301,
          "referenceAllele": "C",
          "start": 300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_001291868.2:c.234C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278797.1:p.Pro78="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682888"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830439143",
      "coordinates": [
        {
          "allele": "G",
          "end": 1323,
          "referenceAllele": "C",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_198270.4:c.765C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_938011.1:p.Pro255="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701298"
    }
  ],
  "type": "nucleotide"
}