{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA359191327",
  "communityStandardTitle": [
    "NM_001369.3(DNAH5):c.13633T>A (p.Trp4545Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.13700839A>T?assembly=hg19",
        "id": "chr5:g.13700839A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.13700730A>T?assembly=hg38",
        "id": "chr5:g.13700730A>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 13700730,
          "referenceAllele": "A",
          "start": 13700729
        }
      ],
      "hgvs": [
        "NC_000005.10:g.13700730A>T",
        "CM000667.2:g.13700730A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 13700839,
          "referenceAllele": "A",
          "start": 13700838
        }
      ],
      "hgvs": [
        "NC_000005.9:g.13700839A>T",
        "CM000667.1:g.13700839A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 13753839,
          "referenceAllele": "A",
          "start": 13753838
        }
      ],
      "hgvs": [
        "NC_000005.8:g.13753839A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 248751,
          "referenceAllele": "T",
          "start": 248750
        }
      ],
      "hgvs": [
        "NG_013081.1:g.248751T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002704"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 248751,
          "referenceAllele": "T",
          "start": 248750
        }
      ],
      "hgvs": [
        "NG_013081.2:g.248751T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673632"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 966,
          "referenceAllele": "T",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000683611.1:n.966T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828583"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13883,
          "referenceAllele": "T",
          "start": 13882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000265104.5:c.13633T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265104.4:p.Trp4545Arg",
        "hgvsWellDefined": "ENSP00000265104.4:p.Trp4545Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.13633T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.13633T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:p.Trp4545Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:p.Trp4545Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13747,
          "referenceAllele": "T",
          "start": 13746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000681290.1:c.13588T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505288.1:p.Trp4530Arg",
        "hgvsWellDefined": "ENSP00000505288.1:p.Trp4530Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780901"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13738,
          "referenceAllele": "T",
          "start": 13737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000265104.4:c.13633T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265104.4:p.Trp4545Arg",
        "hgvsWellDefined": "ENSP00000265104.4:p.Trp4545Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658677695",
      "coordinates": [
        {
          "allele": "A",
          "end": 13675,
          "referenceAllele": "T",
          "start": 13674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.2:c.13633T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:p.Trp4545Arg",
        "hgvsWellDefined": "NP_001360.1:p.Trp4545Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026756"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13688,
          "referenceAllele": "T",
          "start": 13687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_005248262.2:c.13588T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248319.1:p.Trp4530Arg",
        "hgvsWellDefined": "XP_005248319.1:p.Trp4530Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058370"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13758,
          "referenceAllele": "T",
          "start": 13757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_005248262.3:c.13741T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248319.2:p.Trp4581Arg",
        "hgvsWellDefined": "XP_005248319.2:p.Trp4581Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533031"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13338,
          "referenceAllele": "T",
          "start": 13337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009177.1:c.13321T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864666.1:p.Trp4441Arg",
        "hgvsWellDefined": "XP_016864666.1:p.Trp4441Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14561,
          "referenceAllele": "T",
          "start": 14560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009178.1:c.12646T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864667.1:p.Trp4216Arg",
        "hgvsWellDefined": "XP_016864667.1:p.Trp4216Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563536"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12784,
          "referenceAllele": "T",
          "start": 12783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009179.2:c.12646T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864668.1:p.Trp4216Arg",
        "hgvsWellDefined": "XP_016864668.1:p.Trp4216Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9054,
          "referenceAllele": "T",
          "start": 9053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009185.1:c.8830T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864674.1:p.Trp2944Arg",
        "hgvsWellDefined": "XP_016864674.1:p.Trp2944Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563543"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8470,
          "referenceAllele": "T",
          "start": 8469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009186.1:c.8383T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864675.1:p.Trp2795Arg",
        "hgvsWellDefined": "XP_016864675.1:p.Trp2795Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563544"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9286,
          "referenceAllele": "T",
          "start": 9285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009188.1:c.7720T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864677.1:p.Trp2574Arg",
        "hgvsWellDefined": "XP_016864677.1:p.Trp2574Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563546"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 16431,
          "referenceAllele": "T",
          "start": 16430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_024454388.1:c.12646T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310156.1:p.Trp4216Arg",
        "hgvsWellDefined": "XP_024310156.1:p.Trp4216Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15073,
          "referenceAllele": "T",
          "start": 15072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_024454389.1:c.12235T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310157.1:p.Trp4079Arg",
        "hgvsWellDefined": "XP_024310157.1:p.Trp4079Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587751"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658677695",
      "coordinates": [
        {
          "allele": "A",
          "end": 13883,
          "referenceAllele": "T",
          "start": 13882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.3:c.13633T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:p.Trp4545Arg",
        "hgvsWellDefined": "NP_001360.1:p.Trp4545Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.13633T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.13633T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:p.Trp4545Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:p.Trp4545Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}