{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA246847",
  "communityStandardTitle": [
    "NM_001291867.2(NHS):c.1327G>A (p.Gly443Arg)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4706854",
        "active": true,
        "id": "COSM4706854"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4706855",
        "active": true,
        "id": "COSM4706855"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=195452[alleleid]",
        "alleleId": 195452,
        "preferredName": "NM_001291867.2(NHS):c.1327G>A (p.Gly443Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/198291",
        "RCV": [
          "RCV000179568",
          "RCV002444719",
          "RCV003509508"
        ],
        "variationId": 198291
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-17743553-G-A",
        "id": "X-17743553-G-A",
        "variant": "X:17743553 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.17743553G>A?assembly=hg19",
        "id": "chrX:g.17743553G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.17725433G>A?assembly=hg38",
        "id": "chrX:g.17725433G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/371229391",
        "rs": 371229391
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-17743553-G-A?dataset=gnomad_r2_1",
        "id": "X-17743553-G-A",
        "variant": "X:17743553 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-17725433-G-A?dataset=gnomad_r3",
        "id": "X-17725433-G-A",
        "variant": "X:17725433 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-17725433-G-A?dataset=gnomad_r4",
        "id": "X-17725433-G-A",
        "variant": "X:17725433 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 17725433,
          "referenceAllele": "G",
          "start": 17725432
        }
      ],
      "hgvs": [
        "NC_000023.11:g.17725433G>A",
        "CM000685.2:g.17725433G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 17743553,
          "referenceAllele": "G",
          "start": 17743552
        }
      ],
      "hgvs": [
        "NC_000023.10:g.17743553G>A",
        "CM000685.1:g.17743553G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 17653474,
          "referenceAllele": "G",
          "start": 17653473
        }
      ],
      "hgvs": [
        "NC_000023.9:g.17653474G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 355014,
          "referenceAllele": "G",
          "start": 355013
        }
      ],
      "hgvs": [
        "NG_011553.2:g.355014G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001812"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1722,
          "referenceAllele": "G",
          "start": 1721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "ENST00000615422.2:n.1722G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826476"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3207,
          "referenceAllele": "G",
          "start": 3206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "ENST00000690213.1:n.3207G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832590"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 284,
          "referenceAllele": "G",
          "start": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "ENST00000690608.1:n.284G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832785"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1885,
          "referenceAllele": "G",
          "start": 1884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "ENST00000676302.1:c.1327G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502262.1:p.Gly443Arg",
        "hgvsWellDefined": "ENSP00000502262.1:p.Gly443Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776002",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000676302.1:c.1327G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001291867.2:c.1327G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000502262.1:p.Gly443Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001278796.1:p.Gly443Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1602,
          "referenceAllele": "G",
          "start": 1601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "ENST00000380060.7:c.1264G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369400.3:p.Gly422Arg",
        "hgvsWellDefined": "ENSP00000369400.3:p.Gly422Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272764"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1070,
          "referenceAllele": "G",
          "start": 1069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "ENST00000398097.7:c.796G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381170.3:p.Gly266Arg",
        "hgvsWellDefined": "ENSP00000381170.3:p.Gly266Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278131"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1717,
          "referenceAllele": "G",
          "start": 1716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "ENST00000615422.1:c.787G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480113.1:p.Gly263Arg",
        "hgvsWellDefined": "ENSP00000480113.1:p.Gly263Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402611"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1007,
          "referenceAllele": "G",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "ENST00000617601.4:c.715G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478433.1:p.Gly239Arg",
        "hgvsWellDefined": "ENSP00000478433.1:p.Gly239Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403552"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825809287",
      "coordinates": [
        {
          "allele": "A",
          "end": 1070,
          "referenceAllele": "G",
          "start": 1069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_001136024.3:c.796G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129496.1:p.Gly266Arg",
        "hgvsWellDefined": "NP_001129496.1:p.Gly266Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012570"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916018189",
      "coordinates": [
        {
          "allele": "A",
          "end": 1665,
          "referenceAllele": "G",
          "start": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_001291867.1:c.1327G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278796.1:p.Gly443Arg",
        "hgvsWellDefined": "NP_001278796.1:p.Gly443Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826811979",
      "coordinates": [
        {
          "allele": "A",
          "end": 1007,
          "referenceAllele": "G",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_001291868.1:c.733G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278797.1:p.Gly245Arg",
        "hgvsWellDefined": "NP_001278797.1:p.Gly245Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024351"
    },
    {
      "@id": "http://reg.genome.network/allele/PA246848",
      "coordinates": [
        {
          "allele": "A",
          "end": 1602,
          "referenceAllele": "G",
          "start": 1601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_198270.3:c.1264G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_938011.1:p.Gly422Arg",
        "hgvsWellDefined": "NP_938011.1:p.Gly422Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044499"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1223,
          "referenceAllele": "G",
          "start": 1222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "XM_011545528.1:c.379G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543830.1:p.Gly127Arg",
        "hgvsWellDefined": "XP_011543830.1:p.Gly127Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112428"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1214,
          "referenceAllele": "G",
          "start": 1213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "XM_011545528.2:c.379G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543830.1:p.Gly127Arg",
        "hgvsWellDefined": "XP_011543830.1:p.Gly127Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556127"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825809287",
      "coordinates": [
        {
          "allele": "A",
          "end": 863,
          "referenceAllele": "G",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_001136024.4:c.796G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129496.1:p.Gly266Arg",
        "hgvsWellDefined": "NP_001129496.1:p.Gly266Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677381"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916018189",
      "coordinates": [
        {
          "allele": "A",
          "end": 1885,
          "referenceAllele": "G",
          "start": 1884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_001291867.2:c.1327G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278796.1:p.Gly443Arg",
        "hgvsWellDefined": "NP_001278796.1:p.Gly443Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682887",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000676302.1:c.1327G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001291867.2:c.1327G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000502262.1:p.Gly443Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001278796.1:p.Gly443Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826811979",
      "coordinates": [
        {
          "allele": "A",
          "end": 800,
          "referenceAllele": "G",
          "start": 799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_001291868.2:c.733G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278797.1:p.Gly245Arg",
        "hgvsWellDefined": "NP_001278797.1:p.Gly245Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682888"
    },
    {
      "@id": "http://reg.genome.network/allele/PA246848",
      "coordinates": [
        {
          "allele": "A",
          "end": 1822,
          "referenceAllele": "G",
          "start": 1821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_198270.4:c.1264G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_938011.1:p.Gly422Arg",
        "hgvsWellDefined": "NP_938011.1:p.Gly422Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701298"
    }
  ],
  "type": "nucleotide"
}