{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16621266",
  "communityStandardTitle": [
    "NM_001291867.2(NHS):c.565+5G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=411208[alleleid]",
        "alleleId": 411208,
        "preferredName": "NM_001291867.2(NHS):c.565+5G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/421384",
        "RCV": [
          "RCV000483234",
          "RCV002526598"
        ],
        "variationId": 421384
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.17394450G>A?assembly=hg19",
        "id": "chrX:g.17394450G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.17376327G>A?assembly=hg38",
        "id": "chrX:g.17376327G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064795101",
        "rs": 1064795101
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 17376327,
          "referenceAllele": "G",
          "start": 17376326
        }
      ],
      "hgvs": [
        "NC_000023.11:g.17376327G>A",
        "CM000685.2:g.17376327G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 17394450,
          "referenceAllele": "G",
          "start": 17394449
        }
      ],
      "hgvs": [
        "NC_000023.10:g.17394450G>A",
        "CM000685.1:g.17394450G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 17304371,
          "referenceAllele": "G",
          "start": 17304370
        }
      ],
      "hgvs": [
        "NC_000023.9:g.17304371G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5908,
          "referenceAllele": "G",
          "start": 5907
        }
      ],
      "hgvs": [
        "NG_011553.2:g.5908G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001812"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1123,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1123,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "ENST00000676302.1:c.565+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502262.1:n.565+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776002",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000676302.1:c.565+5G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001291867.2:c.565+5G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000502262.1:n.565+5G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001278796.1:n.565+5G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 903,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 903,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "ENST00000380060.7:c.565+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369400.3:n.565+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272764"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 903,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 903,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_001291867.1:c.565+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278796.1:n.565+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024350"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 903,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 903,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_198270.3:c.565+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_938011.1:n.565+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044499"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1123,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1123,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_001291867.2:c.565+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278796.1:n.565+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682887",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000676302.1:c.565+5G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001291867.2:c.565+5G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000502262.1:n.565+5G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001278796.1:n.565+5G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1123,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1123,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_198270.4:c.565+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_938011.1:n.565+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701298"
    }
  ],
  "type": "nucleotide"
}