{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10358852",
  "communityStandardTitle": [
    "NM_001291867.2(NHS):c.3785C>T (p.Thr1262Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=580904[alleleid]",
        "alleleId": 580904,
        "preferredName": "NM_001291867.2(NHS):c.3785C>T (p.Thr1262Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/588843",
        "RCV": [
          "RCV002315339",
          "RCV002533020",
          "RCV003918168"
        ],
        "variationId": 588843
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-17746011-C-T",
        "id": "X-17746011-C-T",
        "variant": "X:17746011 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.17746011C>T?assembly=hg19",
        "id": "chrX:g.17746011C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.17727891C>T?assembly=hg38",
        "id": "chrX:g.17727891C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/141013518",
        "rs": 141013518
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-17746011-C-T?dataset=gnomad_r2_1",
        "id": "X-17746011-C-T",
        "variant": "X:17746011 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-17727891-C-T?dataset=gnomad_r3",
        "id": "X-17727891-C-T",
        "variant": "X:17727891 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-17727891-C-T?dataset=gnomad_r4",
        "id": "X-17727891-C-T",
        "variant": "X:17727891 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 17727891,
          "referenceAllele": "C",
          "start": 17727890
        }
      ],
      "hgvs": [
        "NC_000023.11:g.17727891C>T",
        "CM000685.2:g.17727891C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 17746011,
          "referenceAllele": "C",
          "start": 17746010
        }
      ],
      "hgvs": [
        "NC_000023.10:g.17746011C>T",
        "CM000685.1:g.17746011C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 17655932,
          "referenceAllele": "C",
          "start": 17655931
        }
      ],
      "hgvs": [
        "NC_000023.9:g.17655932C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 357472,
          "referenceAllele": "C",
          "start": 357471
        }
      ],
      "hgvs": [
        "NG_011553.2:g.357472C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001812"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4180,
          "referenceAllele": "C",
          "start": 4179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "ENST00000615422.2:n.4180C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826476"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2742,
          "referenceAllele": "C",
          "start": 2741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "ENST00000690608.1:n.2742C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832785"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4343,
          "referenceAllele": "C",
          "start": 4342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "ENST00000676302.1:c.3785C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502262.1:p.Thr1262Met",
        "hgvsWellDefined": "ENSP00000502262.1:p.Thr1262Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776002",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000676302.1:c.3785C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001291867.2:c.3785C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000502262.1:p.Thr1262Met"
          },
          "RefSeq": {
            "hgvs": "NP_001278796.1:p.Thr1262Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4060,
          "referenceAllele": "C",
          "start": 4059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "ENST00000380060.7:c.3722C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369400.3:p.Thr1241Met",
        "hgvsWellDefined": "ENSP00000369400.3:p.Thr1241Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272764"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3528,
          "referenceAllele": "C",
          "start": 3527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "ENST00000398097.7:c.3254C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381170.3:p.Thr1085Met",
        "hgvsWellDefined": "ENSP00000381170.3:p.Thr1085Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278131"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4175,
          "referenceAllele": "C",
          "start": 4174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "ENST00000615422.1:c.3245C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480113.1:p.Thr1082Met",
        "hgvsWellDefined": "ENSP00000480113.1:p.Thr1082Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402611"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3465,
          "referenceAllele": "C",
          "start": 3464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "ENST00000617601.4:c.3173C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478433.1:p.Thr1058Met",
        "hgvsWellDefined": "ENSP00000478433.1:p.Thr1058Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403552"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825809646",
      "coordinates": [
        {
          "allele": "T",
          "end": 3528,
          "referenceAllele": "C",
          "start": 3527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_001136024.3:c.3254C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129496.1:p.Thr1085Met",
        "hgvsWellDefined": "NP_001129496.1:p.Thr1085Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012570"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916018213",
      "coordinates": [
        {
          "allele": "T",
          "end": 4123,
          "referenceAllele": "C",
          "start": 4122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_001291867.1:c.3785C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278796.1:p.Thr1262Met",
        "hgvsWellDefined": "NP_001278796.1:p.Thr1262Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826812155",
      "coordinates": [
        {
          "allele": "T",
          "end": 3465,
          "referenceAllele": "C",
          "start": 3464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_001291868.1:c.3191C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278797.1:p.Thr1064Met",
        "hgvsWellDefined": "NP_001278797.1:p.Thr1064Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024351"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891861488",
      "coordinates": [
        {
          "allele": "T",
          "end": 4060,
          "referenceAllele": "C",
          "start": 4059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_198270.3:c.3722C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_938011.1:p.Thr1241Met",
        "hgvsWellDefined": "NP_938011.1:p.Thr1241Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044499"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3681,
          "referenceAllele": "C",
          "start": 3680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "XM_011545528.1:c.2837C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543830.1:p.Thr946Met",
        "hgvsWellDefined": "XP_011543830.1:p.Thr946Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112428"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3672,
          "referenceAllele": "C",
          "start": 3671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "XM_011545528.2:c.2837C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543830.1:p.Thr946Met",
        "hgvsWellDefined": "XP_011543830.1:p.Thr946Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556127"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825809646",
      "coordinates": [
        {
          "allele": "T",
          "end": 3321,
          "referenceAllele": "C",
          "start": 3320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_001136024.4:c.3254C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129496.1:p.Thr1085Met",
        "hgvsWellDefined": "NP_001129496.1:p.Thr1085Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677381"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916018213",
      "coordinates": [
        {
          "allele": "T",
          "end": 4343,
          "referenceAllele": "C",
          "start": 4342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_001291867.2:c.3785C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278796.1:p.Thr1262Met",
        "hgvsWellDefined": "NP_001278796.1:p.Thr1262Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682887",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000676302.1:c.3785C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001291867.2:c.3785C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000502262.1:p.Thr1262Met"
          },
          "RefSeq": {
            "hgvs": "NP_001278796.1:p.Thr1262Met"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826812155",
      "coordinates": [
        {
          "allele": "T",
          "end": 3258,
          "referenceAllele": "C",
          "start": 3257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_001291868.2:c.3191C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278797.1:p.Thr1064Met",
        "hgvsWellDefined": "NP_001278797.1:p.Thr1064Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682888"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891861488",
      "coordinates": [
        {
          "allele": "T",
          "end": 4280,
          "referenceAllele": "C",
          "start": 4279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_198270.4:c.3722C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_938011.1:p.Thr1241Met",
        "hgvsWellDefined": "NP_938011.1:p.Thr1241Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701298"
    }
  ],
  "type": "nucleotide"
}