{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA385517000",
  "communityStandardTitle": [
    "NM_004984.4(KIF5A):c.3005A>G (p.Asp1002Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=861392[alleleid]",
        "alleleId": 861392,
        "preferredName": "NM_004984.4(KIF5A):c.3005A>G (p.Asp1002Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/873195",
        "RCV": [
          "RCV001095391",
          "RCV002555972"
        ],
        "variationId": 873195
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.57976397A>G?assembly=hg19",
        "id": "chr12:g.57976397A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.57582614A>G?assembly=hg38",
        "id": "chr12:g.57582614A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1882640177",
        "rs": 1882640177
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 57582614,
          "referenceAllele": "A",
          "start": 57582613
        }
      ],
      "hgvs": [
        "NC_000012.12:g.57582614A>G",
        "CM000674.2:g.57582614A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 57976397,
          "referenceAllele": "A",
          "start": 57976396
        }
      ],
      "hgvs": [
        "NC_000012.11:g.57976397A>G",
        "CM000674.1:g.57976397A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 56262664,
          "referenceAllele": "A",
          "start": 56262663
        }
      ],
      "hgvs": [
        "NC_000012.10:g.56262664A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 37551,
          "referenceAllele": "A",
          "start": 37550
        }
      ],
      "hgvs": [
        "NG_008155.1:g.37551A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000901"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3233,
          "referenceAllele": "A",
          "start": 3232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "ENST00000455537.7:c.3005A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408979.2:p.Asp1002Gly",
        "hgvsWellDefined": "ENSP00000408979.2:p.Asp1002Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756517",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000455537.7:c.3005A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004984.4:c.3005A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000408979.2:p.Asp1002Gly"
          },
          "RefSeq": {
            "hgvs": "NP_004975.2:p.Asp1002Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3271,
          "referenceAllele": "A",
          "start": 3270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "ENST00000674619.1:c.3026A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502270.1:p.Asp1009Gly",
        "hgvsWellDefined": "ENSP00000502270.1:p.Asp1009Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774559"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13,
          "referenceAllele": "A",
          "start": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "ENST00000675201.1:n.13A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775055"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 83,
          "endIntronDirection": "-",
          "endIntronOffset": 486,
          "referenceAllele": "A",
          "start": 83,
          "startIntronDirection": "-",
          "startIntronOffset": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "ENST00000675697.1:c.84-487A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775482"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1058,
          "referenceAllele": "A",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "ENST00000675737.1:n.1058A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775516"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13,
          "referenceAllele": "A",
          "start": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "ENST00000675866.1:c.13A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775631"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2528,
          "referenceAllele": "A",
          "start": 2527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "ENST00000675882.1:n.2528A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1563,
          "referenceAllele": "A",
          "start": 1562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "ENST00000675929.1:n.1563A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 84,
          "referenceAllele": "A",
          "start": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "ENST00000676055.1:c.84A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775793"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13,
          "referenceAllele": "A",
          "start": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "ENST00000676265.1:n.13A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775974"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 30,
          "referenceAllele": "A",
          "start": 29
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "ENST00000676437.1:c.30A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776119"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3067,
          "referenceAllele": "A",
          "start": 3066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "ENST00000676457.1:c.2900A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501588.1:p.Asp967Gly",
        "hgvsWellDefined": "ENSP00000501588.1:p.Asp967Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776136"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2966,
          "referenceAllele": "A",
          "start": 2965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "ENST00000286452.5:c.2738A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286452.5:p.Asp913Gly",
        "hgvsWellDefined": "ENSP00000286452.5:p.Asp913Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253368"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3279,
          "referenceAllele": "A",
          "start": 3278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "ENST00000455537.6:c.3005A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408979.2:p.Asp1002Gly",
        "hgvsWellDefined": "ENSP00000408979.2:p.Asp1002Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303093"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 288,
          "referenceAllele": "A",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "ENST00000552227.1:n.288A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369125"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829563648",
      "coordinates": [
        {
          "allele": "G",
          "end": 3213,
          "referenceAllele": "A",
          "start": 3212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "NM_004984.2:c.3005A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004975.2:p.Asp1002Gly",
        "hgvsWellDefined": "NP_004975.2:p.Asp1002Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030115"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139734248",
      "coordinates": [
        {
          "allele": "G",
          "end": 3018,
          "referenceAllele": "A",
          "start": 3017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "NM_001354705.1:c.2738A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341634.1:p.Asp913Gly",
        "hgvsWellDefined": "NP_001341634.1:p.Asp913Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829563648",
      "coordinates": [
        {
          "allele": "G",
          "end": 3285,
          "referenceAllele": "A",
          "start": 3284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "NM_004984.3:c.3005A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004975.2:p.Asp1002Gly",
        "hgvsWellDefined": "NP_004975.2:p.Asp1002Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525268"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3238,
          "referenceAllele": "A",
          "start": 3237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "XR_002957324.1:n.3238A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603460"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829563648",
      "coordinates": [
        {
          "allele": "G",
          "end": 3233,
          "referenceAllele": "A",
          "start": 3232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "NM_004984.4:c.3005A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004975.2:p.Asp1002Gly",
        "hgvsWellDefined": "NP_004975.2:p.Asp1002Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666754",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000455537.7:c.3005A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004984.4:c.3005A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000408979.2:p.Asp1002Gly"
          },
          "RefSeq": {
            "hgvs": "NP_004975.2:p.Asp1002Gly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139734248",
      "coordinates": [
        {
          "allele": "G",
          "end": 2966,
          "referenceAllele": "A",
          "start": 2965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "NM_001354705.2:c.2738A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341634.1:p.Asp913Gly",
        "hgvsWellDefined": "NP_001341634.1:p.Asp913Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690297"
    }
  ],
  "type": "nucleotide"
}