{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2593999",
  "communityStandardTitle": [
    "NM_032242.4(PLXNA1):c.3368C>T (p.Pro1123Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1497794[alleleid]",
        "alleleId": 1497794,
        "preferredName": "NM_032242.4(PLXNA1):c.3368C>T (p.Pro1123Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1434096",
        "RCV": [
          "RCV001962363",
          "RCV003941215",
          "RCV004042119"
        ],
        "variationId": 1434096
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-126736359-C-T",
        "id": "3-126736359-C-T",
        "variant": "3:126736359 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.126736359C>T?assembly=hg19",
        "id": "chr3:g.126736359C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.127017516C>T?assembly=hg38",
        "id": "chr3:g.127017516C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/144485621",
        "rs": 144485621
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-126736359-C-T?dataset=gnomad_r2_1",
        "id": "3-126736359-C-T",
        "variant": "3:126736359 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-127017516-C-T?dataset=gnomad_r3",
        "id": "3-127017516-C-T",
        "variant": "3:127017516 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-127017516-C-T?dataset=gnomad_r4",
        "id": "3-127017516-C-T",
        "variant": "3:127017516 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 127017516,
          "referenceAllele": "C",
          "start": 127017515
        }
      ],
      "hgvs": [
        "NC_000003.12:g.127017516C>T",
        "CM000665.2:g.127017516C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 126736359,
          "referenceAllele": "C",
          "start": 126736358
        }
      ],
      "hgvs": [
        "NC_000003.11:g.126736359C>T",
        "CM000665.1:g.126736359C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 128219049,
          "referenceAllele": "C",
          "start": 128219048
        }
      ],
      "hgvs": [
        "NC_000003.10:g.128219049C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3614,
          "referenceAllele": "C",
          "start": 3613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009099",
      "geneNCBI_id": 5361,
      "geneSymbol": "PLXNA1",
      "hgvs": [
        "ENST00000393409.3:c.3368C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377061.2:p.Pro1123Leu",
        "hgvsWellDefined": "ENSP00000377061.2:p.Pro1123Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824460",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393409.3:c.3368C>T"
          },
          "RefSeq": {
            "hgvs": "NM_032242.4:c.3368C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377061.2:p.Pro1123Leu"
          },
          "RefSeq": {
            "hgvs": "NP_115618.3:p.Pro1123Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3368,
          "referenceAllele": "C",
          "start": 3367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009099",
      "geneNCBI_id": 5361,
      "geneSymbol": "PLXNA1",
      "hgvs": [
        "ENST00000393409.2:c.3368C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377061.2:p.Pro1123Leu",
        "hgvsWellDefined": "ENSP00000377061.2:p.Pro1123Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275604"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573291973",
      "coordinates": [
        {
          "allele": "T",
          "end": 3368,
          "referenceAllele": "C",
          "start": 3367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009099",
      "geneNCBI_id": 5361,
      "geneSymbol": "PLXNA1",
      "hgvs": [
        "NM_032242.3:c.3368C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_115618.3:p.Pro1123Leu",
        "hgvsWellDefined": "NP_115618.3:p.Pro1123Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038933"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3459,
          "referenceAllele": "C",
          "start": 3458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009099",
      "geneNCBI_id": 5361,
      "geneSymbol": "PLXNA1",
      "hgvs": [
        "XM_011512908.1:c.3422C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511210.1:p.Pro1141Leu",
        "hgvsWellDefined": "XP_011511210.1:p.Pro1141Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4063,
          "referenceAllele": "C",
          "start": 4062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009099",
      "geneNCBI_id": 5361,
      "geneSymbol": "PLXNA1",
      "hgvs": [
        "XM_011512909.1:c.3422C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511211.1:p.Pro1141Leu",
        "hgvsWellDefined": "XP_011511211.1:p.Pro1141Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080164"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3470,
          "referenceAllele": "C",
          "start": 3469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009099",
      "geneNCBI_id": 5361,
      "geneSymbol": "PLXNA1",
      "hgvs": [
        "XM_011512908.2:c.3422C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511210.1:p.Pro1141Leu",
        "hgvsWellDefined": "XP_011511210.1:p.Pro1141Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542719"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573291973",
      "coordinates": [
        {
          "allele": "T",
          "end": 3614,
          "referenceAllele": "C",
          "start": 3613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009099",
      "geneNCBI_id": 5361,
      "geneSymbol": "PLXNA1",
      "hgvs": [
        "NM_032242.4:c.3368C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_115618.3:p.Pro1123Leu",
        "hgvsWellDefined": "NP_115618.3:p.Pro1123Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728814",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393409.3:c.3368C>T"
          },
          "RefSeq": {
            "hgvs": "NM_032242.4:c.3368C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377061.2:p.Pro1123Leu"
          },
          "RefSeq": {
            "hgvs": "NP_115618.3:p.Pro1123Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}