{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA359233389",
  "communityStandardTitle": [
    "NM_001369.3(DNAH5):c.3415G>C (p.Asp1139His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=455140[alleleid]",
        "alleleId": 455140,
        "preferredName": "NM_001369.3(DNAH5):c.3415G>C (p.Asp1139His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/454764",
        "RCV": [
          "RCV000524800",
          "RCV004526697"
        ],
        "variationId": 454764
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.13871856C>G?assembly=hg19",
        "id": "chr5:g.13871856C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.13871747C>G?assembly=hg38",
        "id": "chr5:g.13871747C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1554085372",
        "rs": 1554085372
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13871747-C-G?dataset=gnomad_r4",
        "id": "5-13871747-C-G",
        "variant": "5:13871747 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 13871747,
          "referenceAllele": "C",
          "start": 13871746
        }
      ],
      "hgvs": [
        "NC_000005.10:g.13871747C>G",
        "CM000667.2:g.13871747C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 13871856,
          "referenceAllele": "C",
          "start": 13871855
        }
      ],
      "hgvs": [
        "NC_000005.9:g.13871856C>G",
        "CM000667.1:g.13871856C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 13924856,
          "referenceAllele": "C",
          "start": 13924855
        }
      ],
      "hgvs": [
        "NC_000005.8:g.13924856C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 77734,
          "referenceAllele": "G",
          "start": 77733
        }
      ],
      "hgvs": [
        "NG_013081.1:g.77734G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002704"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 77734,
          "referenceAllele": "G",
          "start": 77733
        }
      ],
      "hgvs": [
        "NG_013081.2:g.77734G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673632"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3665,
          "referenceAllele": "G",
          "start": 3664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000265104.5:c.3415G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265104.4:p.Asp1139His",
        "hgvsWellDefined": "ENSP00000265104.4:p.Asp1139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.3415G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.3415G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:p.Asp1139His"
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:p.Asp1139His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3529,
          "referenceAllele": "G",
          "start": 3528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000681290.1:c.3370G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505288.1:p.Asp1124His",
        "hgvsWellDefined": "ENSP00000505288.1:p.Asp1124His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780901"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3520,
          "referenceAllele": "G",
          "start": 3519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000265104.4:c.3415G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265104.4:p.Asp1139His",
        "hgvsWellDefined": "ENSP00000265104.4:p.Asp1139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658677384",
      "coordinates": [
        {
          "allele": "C",
          "end": 3457,
          "referenceAllele": "G",
          "start": 3456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.2:c.3415G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:p.Asp1139His",
        "hgvsWellDefined": "NP_001360.1:p.Asp1139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026756"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3470,
          "referenceAllele": "G",
          "start": 3469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_005248262.2:c.3370G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248319.1:p.Asp1124His",
        "hgvsWellDefined": "XP_005248319.1:p.Asp1124His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058370"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3622,
          "referenceAllele": "G",
          "start": 3621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_011513990.1:c.3415G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512292.1:p.Asp1139His",
        "hgvsWellDefined": "XP_011512292.1:p.Asp1139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081219"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3622,
          "referenceAllele": "G",
          "start": 3621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XR_925598.1:n.3622G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122426"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3540,
          "referenceAllele": "G",
          "start": 3539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_005248262.3:c.3523G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248319.2:p.Asp1175His",
        "hgvsWellDefined": "XP_005248319.2:p.Asp1175His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533031"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3540,
          "referenceAllele": "G",
          "start": 3539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009177.1:c.3523G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864666.1:p.Asp1175His",
        "hgvsWellDefined": "XP_016864666.1:p.Asp1175His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563535"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4343,
          "referenceAllele": "G",
          "start": 4342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009178.1:c.2428G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864667.1:p.Asp810His",
        "hgvsWellDefined": "XP_016864667.1:p.Asp810His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563536"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2566,
          "referenceAllele": "G",
          "start": 2565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009179.2:c.2428G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864668.1:p.Asp810His",
        "hgvsWellDefined": "XP_016864668.1:p.Asp810His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563537"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3540,
          "referenceAllele": "G",
          "start": 3539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009180.1:c.3523G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864669.1:p.Asp1175His",
        "hgvsWellDefined": "XP_016864669.1:p.Asp1175His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563538"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3540,
          "referenceAllele": "G",
          "start": 3539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009181.1:c.3523G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864670.1:p.Asp1175His",
        "hgvsWellDefined": "XP_016864670.1:p.Asp1175His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563539"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3540,
          "referenceAllele": "G",
          "start": 3539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009182.1:c.3523G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864671.1:p.Asp1175His",
        "hgvsWellDefined": "XP_016864671.1:p.Asp1175His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563540"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3540,
          "referenceAllele": "G",
          "start": 3539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009183.1:c.3523G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864672.1:p.Asp1175His",
        "hgvsWellDefined": "XP_016864672.1:p.Asp1175His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563541"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3540,
          "referenceAllele": "G",
          "start": 3539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009184.1:c.3523G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864673.1:p.Asp1175His",
        "hgvsWellDefined": "XP_016864673.1:p.Asp1175His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563542"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3540,
          "referenceAllele": "G",
          "start": 3539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009187.1:c.3523G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864676.1:p.Asp1175His",
        "hgvsWellDefined": "XP_016864676.1:p.Asp1175His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563545"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6213,
          "referenceAllele": "G",
          "start": 6212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_024454388.1:c.2428G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310156.1:p.Asp810His",
        "hgvsWellDefined": "XP_024310156.1:p.Asp810His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587750"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4855,
          "referenceAllele": "G",
          "start": 4854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_024454389.1:c.2017G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310157.1:p.Asp673His",
        "hgvsWellDefined": "XP_024310157.1:p.Asp673His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587751"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3540,
          "referenceAllele": "G",
          "start": 3539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XR_001742034.1:n.3540G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591906"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3540,
          "referenceAllele": "G",
          "start": 3539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XR_001742035.1:n.3540G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591907"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658677384",
      "coordinates": [
        {
          "allele": "C",
          "end": 3665,
          "referenceAllele": "G",
          "start": 3664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.3:c.3415G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:p.Asp1139His",
        "hgvsWellDefined": "NP_001360.1:p.Asp1139His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.3415G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.3415G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:p.Asp1139His"
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:p.Asp1139His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}