{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3201460",
  "communityStandardTitle": [
    "NM_001369.3(DNAH5):c.13070C>G (p.Ala4357Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=297176[alleleid]",
        "alleleId": 297176,
        "preferredName": "NM_001369.3(DNAH5):c.13070C>G (p.Ala4357Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/351007",
        "RCV": [
          "RCV000378813",
          "RCV000596408",
          "RCV002520314"
        ],
        "variationId": 351007
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-13714569-G-C",
        "id": "5-13714569-G-C",
        "variant": "5:13714569 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.13714569G>C?assembly=hg19",
        "id": "chr5:g.13714569G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.13714460G>C?assembly=hg38",
        "id": "chr5:g.13714460G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/368776967",
        "rs": 368776967
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13714569-G-C?dataset=gnomad_r2_1",
        "id": "5-13714569-G-C",
        "variant": "5:13714569 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13714460-G-C?dataset=gnomad_r3",
        "id": "5-13714460-G-C",
        "variant": "5:13714460 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13714460-G-C?dataset=gnomad_r4",
        "id": "5-13714460-G-C",
        "variant": "5:13714460 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 13714460,
          "referenceAllele": "G",
          "start": 13714459
        }
      ],
      "hgvs": [
        "NC_000005.10:g.13714460G>C",
        "CM000667.2:g.13714460G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 13714569,
          "referenceAllele": "G",
          "start": 13714568
        }
      ],
      "hgvs": [
        "NC_000005.9:g.13714569G>C",
        "CM000667.1:g.13714569G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 13767569,
          "referenceAllele": "G",
          "start": 13767568
        }
      ],
      "hgvs": [
        "NC_000005.8:g.13767569G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 235021,
          "referenceAllele": "C",
          "start": 235020
        }
      ],
      "hgvs": [
        "NG_013081.1:g.235021C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002704"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 235021,
          "referenceAllele": "C",
          "start": 235020
        }
      ],
      "hgvs": [
        "NG_013081.2:g.235021C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673632"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 403,
          "referenceAllele": "C",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000683611.1:n.403C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828583"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13320,
          "referenceAllele": "C",
          "start": 13319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000265104.5:c.13070C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265104.4:p.Ala4357Gly",
        "hgvsWellDefined": "ENSP00000265104.4:p.Ala4357Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.13070C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.13070C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:p.Ala4357Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:p.Ala4357Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13184,
          "referenceAllele": "C",
          "start": 13183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000681290.1:c.13025C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505288.1:p.Ala4342Gly",
        "hgvsWellDefined": "ENSP00000505288.1:p.Ala4342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780901"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13175,
          "referenceAllele": "C",
          "start": 13174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000265104.4:c.13070C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265104.4:p.Ala4357Gly",
        "hgvsWellDefined": "ENSP00000265104.4:p.Ala4357Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645389640",
      "coordinates": [
        {
          "allele": "G",
          "end": 13112,
          "referenceAllele": "C",
          "start": 13111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.2:c.13070C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:p.Ala4357Gly",
        "hgvsWellDefined": "NP_001360.1:p.Ala4357Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026756"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13125,
          "referenceAllele": "C",
          "start": 13124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_005248262.2:c.13025C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248319.1:p.Ala4342Gly",
        "hgvsWellDefined": "XP_005248319.1:p.Ala4342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058370"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13195,
          "referenceAllele": "C",
          "start": 13194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_005248262.3:c.13178C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248319.2:p.Ala4393Gly",
        "hgvsWellDefined": "XP_005248319.2:p.Ala4393Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533031"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12830,
          "endIntronDirection": "+",
          "endIntronOffset": 2855,
          "referenceAllele": "C",
          "start": 12830,
          "startIntronDirection": "+",
          "startIntronOffset": 2854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009177.1:c.12813+2855C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864666.1:n.12813+2855C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563535"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13998,
          "referenceAllele": "C",
          "start": 13997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009178.1:c.12083C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864667.1:p.Ala4028Gly",
        "hgvsWellDefined": "XP_016864667.1:p.Ala4028Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563536"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12221,
          "referenceAllele": "C",
          "start": 12220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009179.2:c.12083C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864668.1:p.Ala4028Gly",
        "hgvsWellDefined": "XP_016864668.1:p.Ala4028Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563537"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8491,
          "referenceAllele": "C",
          "start": 8490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009185.1:c.8267C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864674.1:p.Ala2756Gly",
        "hgvsWellDefined": "XP_016864674.1:p.Ala2756Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563543"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7907,
          "referenceAllele": "C",
          "start": 7906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009186.1:c.7820C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864675.1:p.Ala2607Gly",
        "hgvsWellDefined": "XP_016864675.1:p.Ala2607Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563544"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8723,
          "referenceAllele": "C",
          "start": 8722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009188.1:c.7157C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864677.1:p.Ala2386Gly",
        "hgvsWellDefined": "XP_016864677.1:p.Ala2386Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563546"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15868,
          "referenceAllele": "C",
          "start": 15867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_024454388.1:c.12083C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310156.1:p.Ala4028Gly",
        "hgvsWellDefined": "XP_024310156.1:p.Ala4028Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587750"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14510,
          "referenceAllele": "C",
          "start": 14509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_024454389.1:c.11672C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310157.1:p.Ala3891Gly",
        "hgvsWellDefined": "XP_024310157.1:p.Ala3891Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587751"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645389640",
      "coordinates": [
        {
          "allele": "G",
          "end": 13320,
          "referenceAllele": "C",
          "start": 13319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.3:c.13070C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:p.Ala4357Gly",
        "hgvsWellDefined": "NP_001360.1:p.Ala4357Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.13070C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.13070C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:p.Ala4357Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:p.Ala4357Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}