{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA234375",
  "communityStandardTitle": [
    "NM_001291867.2(NHS):c.152C>T (p.Ala51Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=177308[alleleid]",
        "alleleId": 177308,
        "preferredName": "NM_001291867.2(NHS):c.152C>T (p.Ala51Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/167351",
        "RCV": [
          "RCV000153563",
          "RCV000764867",
          "RCV002316969",
          "RCV001349017"
        ],
        "variationId": 167351
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-17394032-C-T",
        "id": "X-17394032-C-T",
        "variant": "X:17394032 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.17394032C>T?assembly=hg19",
        "id": "chrX:g.17394032C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.17375909C>T?assembly=hg38",
        "id": "chrX:g.17375909C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/727504039",
        "rs": 727504039
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-17394032-C-T?dataset=gnomad_r2_1",
        "id": "X-17394032-C-T",
        "variant": "X:17394032 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-17375909-C-T?dataset=gnomad_r3",
        "id": "X-17375909-C-T",
        "variant": "X:17375909 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-17375909-C-T?dataset=gnomad_r4",
        "id": "X-17375909-C-T",
        "variant": "X:17375909 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 17375909,
          "referenceAllele": "C",
          "start": 17375908
        }
      ],
      "hgvs": [
        "NC_000023.11:g.17375909C>T",
        "CM000685.2:g.17375909C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 17394032,
          "referenceAllele": "C",
          "start": 17394031
        }
      ],
      "hgvs": [
        "NC_000023.10:g.17394032C>T",
        "CM000685.1:g.17394032C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 17303953,
          "referenceAllele": "C",
          "start": 17303952
        }
      ],
      "hgvs": [
        "NC_000023.9:g.17303953C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5490,
          "referenceAllele": "C",
          "start": 5489
        }
      ],
      "hgvs": [
        "NG_011553.2:g.5490C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001812"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 710,
          "referenceAllele": "C",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "ENST00000676302.1:c.152C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502262.1:p.Ala51Val",
        "hgvsWellDefined": "ENSP00000502262.1:p.Ala51Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776002",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000676302.1:c.152C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001291867.2:c.152C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000502262.1:p.Ala51Val"
          },
          "RefSeq": {
            "hgvs": "NP_001278796.1:p.Ala51Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "referenceAllele": "C",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "ENST00000380060.7:c.152C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369400.3:p.Ala51Val",
        "hgvsWellDefined": "ENSP00000369400.3:p.Ala51Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272764"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826811700",
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "referenceAllele": "C",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_001291867.1:c.152C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278796.1:p.Ala51Val",
        "hgvsWellDefined": "NP_001278796.1:p.Ala51Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA234376",
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "referenceAllele": "C",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_198270.3:c.152C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_938011.1:p.Ala51Val",
        "hgvsWellDefined": "NP_938011.1:p.Ala51Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044499"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826811700",
      "coordinates": [
        {
          "allele": "T",
          "end": 710,
          "referenceAllele": "C",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_001291867.2:c.152C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278796.1:p.Ala51Val",
        "hgvsWellDefined": "NP_001278796.1:p.Ala51Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682887",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000676302.1:c.152C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001291867.2:c.152C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000502262.1:p.Ala51Val"
          },
          "RefSeq": {
            "hgvs": "NP_001278796.1:p.Ala51Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA234376",
      "coordinates": [
        {
          "allele": "T",
          "end": 710,
          "referenceAllele": "C",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_198270.4:c.152C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_938011.1:p.Ala51Val",
        "hgvsWellDefined": "NP_938011.1:p.Ala51Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701298"
    }
  ],
  "type": "nucleotide"
}