{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA366952416",
  "communityStandardTitle": [
    "NM_001277115.2(DNAH11):c.4230G>C (p.Trp1410Cys)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.21657371G>C?assembly=hg19",
        "id": "chr7:g.21657371G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.21617753G>C?assembly=hg38",
        "id": "chr7:g.21617753G>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 21617753,
          "referenceAllele": "G",
          "start": 21617752
        }
      ],
      "hgvs": [
        "NC_000007.14:g.21617753G>C",
        "CM000669.2:g.21617753G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 21657371,
          "referenceAllele": "G",
          "start": 21657370
        }
      ],
      "hgvs": [
        "NC_000007.13:g.21657371G>C",
        "CM000669.1:g.21657371G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 21623896,
          "referenceAllele": "G",
          "start": 21623895
        }
      ],
      "hgvs": [
        "NC_000007.12:g.21623896G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 79539,
          "referenceAllele": "G",
          "start": 79538
        }
      ],
      "hgvs": [
        "NG_012886.2:g.79539G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002609"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4437,
          "referenceAllele": "G",
          "start": 4436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "ENST00000409508.8:c.4230G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475939.1:p.Trp1410Cys",
        "hgvsWellDefined": "ENSP00000475939.1:p.Trp1410Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754305",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409508.8:c.4230G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001277115.2:c.4230G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000475939.1:p.Trp1410Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001264044.1:p.Trp1410Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4276,
          "referenceAllele": "G",
          "start": 4275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "ENST00000328843.10:c.4245G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330671.7:p.Trp1415Cys",
        "hgvsWellDefined": "ENSP00000330671.7:p.Trp1415Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258981"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4261,
          "referenceAllele": "G",
          "start": 4260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "ENST00000409508.7:c.4230G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475939.1:p.Trp1410Cys",
        "hgvsWellDefined": "ENSP00000475939.1:p.Trp1410Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281610"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4276,
          "referenceAllele": "G",
          "start": 4275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "ENST00000620169.4:c.4245G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481693.1:p.Trp1415Cys",
        "hgvsWellDefined": "ENSP00000481693.1:p.Trp1415Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404703"
    },
    {
      "@id": "http://reg.genome.network/allele/PA355155",
      "coordinates": [
        {
          "allele": "C",
          "end": 4261,
          "referenceAllele": "G",
          "start": 4260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "NM_001277115.1:c.4230G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264044.1:p.Trp1410Cys",
        "hgvsWellDefined": "NP_001264044.1:p.Trp1410Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020967"
    },
    {
      "@id": "http://reg.genome.network/allele/PA355155",
      "coordinates": [
        {
          "allele": "C",
          "end": 4437,
          "referenceAllele": "G",
          "start": 4436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "NM_001277115.2:c.4230G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264044.1:p.Trp1410Cys",
        "hgvsWellDefined": "NP_001264044.1:p.Trp1410Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664162",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409508.8:c.4230G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001277115.2:c.4230G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000475939.1:p.Trp1410Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001264044.1:p.Trp1410Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}