{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA320247",
  "communityStandardTitle": [
    "NM_000093.5(COL5A1):c.4765G>A (p.Ala1589Thr)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM5063741"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=210120[alleleid]",
        "alleleId": 210120,
        "preferredName": "NM_000093.5(COL5A1):c.4765G>A (p.Ala1589Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/212990",
        "RCV": [
          "RCV000195865",
          "RCV002229061",
          "RCV001199934",
          "RCV002336524"
        ],
        "variationId": 212990
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-137716512-G-A",
        "id": "9-137716512-G-A",
        "variant": "9:137716512 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.137716512G>A?assembly=hg19",
        "id": "chr9:g.137716512G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.134824666G>A?assembly=hg38",
        "id": "chr9:g.134824666G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/377138881",
        "rs": 377138881
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-137716512-G-A?dataset=gnomad_r2_1",
        "id": "9-137716512-G-A",
        "variant": "9:137716512 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-134824666-G-A?dataset=gnomad_r3",
        "id": "9-134824666-G-A",
        "variant": "9:134824666 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-134824666-G-A?dataset=gnomad_r4",
        "id": "9-134824666-G-A",
        "variant": "9:134824666 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 134824666,
          "referenceAllele": "G",
          "start": 134824665
        }
      ],
      "hgvs": [
        "NC_000009.12:g.134824666G>A",
        "CM000671.2:g.134824666G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 137716512,
          "referenceAllele": "G",
          "start": 137716511
        }
      ],
      "hgvs": [
        "NC_000009.11:g.137716512G>A",
        "CM000671.1:g.137716512G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 136856333,
          "referenceAllele": "G",
          "start": 136856332
        }
      ],
      "hgvs": [
        "NC_000009.10:g.136856333G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 187861,
          "referenceAllele": "G",
          "start": 187860
        }
      ],
      "hgvs": [
        "NG_008030.1:g.187861G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000787"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5150,
          "referenceAllele": "G",
          "start": 5149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "ENST00000371820.4:c.4765G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360885.4:p.Ala1589Thr",
        "hgvsWellDefined": "ENSP00000360885.4:p.Ala1589Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904513"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5150,
          "referenceAllele": "G",
          "start": 5149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "ENST00000371817.8:c.4765G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360882.3:p.Ala1589Thr",
        "hgvsWellDefined": "ENSP00000360882.3:p.Ala1589Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750871",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371817.8:c.4765G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000093.5:c.4765G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360882.3:p.Ala1589Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000084.3:p.Ala1589Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5179,
          "referenceAllele": "G",
          "start": 5178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "ENST00000371817.7:c.4765G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360882.3:p.Ala1589Thr",
        "hgvsWellDefined": "ENSP00000360882.3:p.Ala1589Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268767"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 23,
          "referenceAllele": "G",
          "start": 22
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "ENST00000371820.3:c.23G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS268770"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 233,
          "referenceAllele": "G",
          "start": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "ENST00000460264.5:n.233G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5148,
          "referenceAllele": "G",
          "start": 5147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "ENST00000618395.4:c.4765G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481360.1:p.Ala1589Thr",
        "hgvsWellDefined": "ENSP00000481360.1:p.Ala1589Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA320248",
      "coordinates": [
        {
          "allele": "A",
          "end": 5148,
          "referenceAllele": "G",
          "start": 5147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "NM_000093.4:c.4765G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000084.3:p.Ala1589Thr",
        "hgvsWellDefined": "NP_000084.3:p.Ala1589Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006157"
    },
    {
      "@id": "http://reg.genome.network/allele/PA320249",
      "coordinates": [
        {
          "allele": "A",
          "end": 5148,
          "referenceAllele": "G",
          "start": 5147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "NM_001278074.1:c.4765G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265003.1:p.Ala1589Thr",
        "hgvsWellDefined": "NP_001265003.1:p.Ala1589Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021060"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 70,
          "endIntronDirection": "-",
          "endIntronOffset": 4456,
          "referenceAllele": "C",
          "start": 70,
          "startIntronDirection": "-",
          "startIntronOffset": 4457
        }
      ],
      "hgvs": [
        "NR_103451.2:n.71-4457C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5167,
          "referenceAllele": "G",
          "start": 5166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "XR_929712.1:n.5167G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125841"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5167,
          "referenceAllele": "G",
          "start": 5166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "XR_929713.1:n.5167G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125842"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5164,
          "referenceAllele": "G",
          "start": 5163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "XM_017014266.2:c.4765G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869755.1:p.Ala1589Thr",
        "hgvsWellDefined": "XP_016869755.1:p.Ala1589Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567288"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5163,
          "referenceAllele": "G",
          "start": 5162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "XR_001746183.1:n.5163G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594538"
    },
    {
      "@id": "http://reg.genome.network/allele/PA320248",
      "coordinates": [
        {
          "allele": "A",
          "end": 5150,
          "referenceAllele": "G",
          "start": 5149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "NM_000093.5:c.4765G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000084.3:p.Ala1589Thr",
        "hgvsWellDefined": "NP_000084.3:p.Ala1589Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674700",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371817.8:c.4765G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000093.5:c.4765G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360882.3:p.Ala1589Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000084.3:p.Ala1589Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}