{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3205034",
  "communityStandardTitle": [
    "NM_001369.3(DNAH5):c.935T>G (p.Val312Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=633471[alleleid]",
        "alleleId": 633471,
        "preferredName": "NM_001369.3(DNAH5):c.935T>G (p.Val312Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/666162",
        "RCV": [
          "RCV000824597"
        ],
        "variationId": 666162
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-13919325-A-C",
        "id": "5-13919325-A-C",
        "variant": "5:13919325 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.13919325A>C?assembly=hg19",
        "id": "chr5:g.13919325A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.13919216A>C?assembly=hg38",
        "id": "chr5:g.13919216A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/762677340",
        "rs": 762677340
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13919325-A-C?dataset=gnomad_r2_1",
        "id": "5-13919325-A-C",
        "variant": "5:13919325 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13919216-A-C?dataset=gnomad_r3",
        "id": "5-13919216-A-C",
        "variant": "5:13919216 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13919216-A-C?dataset=gnomad_r4",
        "id": "5-13919216-A-C",
        "variant": "5:13919216 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 13919216,
          "referenceAllele": "A",
          "start": 13919215
        }
      ],
      "hgvs": [
        "NC_000005.10:g.13919216A>C",
        "CM000667.2:g.13919216A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 13919325,
          "referenceAllele": "A",
          "start": 13919324
        }
      ],
      "hgvs": [
        "NC_000005.9:g.13919325A>C",
        "CM000667.1:g.13919325A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 13972325,
          "referenceAllele": "A",
          "start": 13972324
        }
      ],
      "hgvs": [
        "NC_000005.8:g.13972325A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 30265,
          "referenceAllele": "T",
          "start": 30264
        }
      ],
      "hgvs": [
        "NG_013081.1:g.30265T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002704"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 30265,
          "referenceAllele": "T",
          "start": 30264
        }
      ],
      "hgvs": [
        "NG_013081.2:g.30265T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673632"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 991,
          "referenceAllele": "T",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000680213.2:n.991T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826947"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 979,
          "referenceAllele": "T",
          "start": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000682376.1:n.979T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827368"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1028,
          "referenceAllele": "T",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000682586.1:n.1028T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827576"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 874,
          "referenceAllele": "T",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000683011.1:n.874T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827998"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1034,
          "referenceAllele": "T",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000683967.1:n.1034T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828930"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1034,
          "referenceAllele": "T",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000684013.1:n.1034T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828975"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1030,
          "referenceAllele": "T",
          "start": 1029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000684099.1:n.1030T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829058"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1185,
          "referenceAllele": "T",
          "start": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000265104.5:c.935T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265104.4:p.Val312Gly",
        "hgvsWellDefined": "ENSP00000265104.4:p.Val312Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.935T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.935T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:p.Val312Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:p.Val312Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 991,
          "referenceAllele": "T",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000680213.1:c.695T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506622.1:p.Val232Gly",
        "hgvsWellDefined": "ENSP00000506622.1:p.Val232Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779833"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1049,
          "referenceAllele": "T",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000681290.1:c.890T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505288.1:p.Val297Gly",
        "hgvsWellDefined": "ENSP00000505288.1:p.Val297Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780901"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1040,
          "referenceAllele": "T",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000265104.4:c.935T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265104.4:p.Val312Gly",
        "hgvsWellDefined": "ENSP00000265104.4:p.Val312Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251673"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1343,
          "referenceAllele": "T",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000508040.1:n.1343T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS339162"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915975003",
      "coordinates": [
        {
          "allele": "G",
          "end": 977,
          "referenceAllele": "T",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.2:c.935T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:p.Val312Gly",
        "hgvsWellDefined": "NP_001360.1:p.Val312Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026756"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 990,
          "referenceAllele": "T",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_005248262.2:c.890T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248319.1:p.Val297Gly",
        "hgvsWellDefined": "XP_005248319.1:p.Val297Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058370"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1142,
          "referenceAllele": "T",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_011513990.1:c.935T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512292.1:p.Val312Gly",
        "hgvsWellDefined": "XP_011512292.1:p.Val312Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081219"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1142,
          "referenceAllele": "T",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XR_925598.1:n.1142T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122426"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1060,
          "referenceAllele": "T",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_005248262.3:c.1043T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248319.2:p.Val348Gly",
        "hgvsWellDefined": "XP_005248319.2:p.Val348Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533031"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1060,
          "referenceAllele": "T",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009177.1:c.1043T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864666.1:p.Val348Gly",
        "hgvsWellDefined": "XP_016864666.1:p.Val348Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563535"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1863,
          "referenceAllele": "T",
          "start": 1862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009178.1:c.-53T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864667.1:n.-53T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563536"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1060,
          "referenceAllele": "T",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009180.1:c.1043T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864669.1:p.Val348Gly",
        "hgvsWellDefined": "XP_016864669.1:p.Val348Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563538"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1060,
          "referenceAllele": "T",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009181.1:c.1043T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864670.1:p.Val348Gly",
        "hgvsWellDefined": "XP_016864670.1:p.Val348Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563539"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1060,
          "referenceAllele": "T",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009182.1:c.1043T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864671.1:p.Val348Gly",
        "hgvsWellDefined": "XP_016864671.1:p.Val348Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563540"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1060,
          "referenceAllele": "T",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009183.1:c.1043T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864672.1:p.Val348Gly",
        "hgvsWellDefined": "XP_016864672.1:p.Val348Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563541"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1060,
          "referenceAllele": "T",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009184.1:c.1043T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864673.1:p.Val348Gly",
        "hgvsWellDefined": "XP_016864673.1:p.Val348Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563542"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1060,
          "referenceAllele": "T",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009187.1:c.1043T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864676.1:p.Val348Gly",
        "hgvsWellDefined": "XP_016864676.1:p.Val348Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563545"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1814,
          "referenceAllele": "T",
          "start": 1813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_024454388.1:c.-1972T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310156.1:n.-1972T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587750"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1814,
          "referenceAllele": "T",
          "start": 1813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_024454389.1:c.-1025T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310157.1:n.-1025T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587751"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1060,
          "referenceAllele": "T",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XR_001742034.1:n.1060T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591906"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1060,
          "referenceAllele": "T",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XR_001742035.1:n.1060T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591907"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915975003",
      "coordinates": [
        {
          "allele": "G",
          "end": 1185,
          "referenceAllele": "T",
          "start": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.3:c.935T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:p.Val312Gly",
        "hgvsWellDefined": "NP_001360.1:p.Val312Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.935T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.935T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:p.Val312Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:p.Val312Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}