{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA254547",
  "communityStandardTitle": [
    "NM_000514.4(GDNF):c.448G>A (p.Asp150Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23798[alleleid]",
        "alleleId": 23798,
        "preferredName": "NM_000514.4(GDNF):c.448G>A (p.Asp150Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8759",
        "RCV": [
          "RCV000009304",
          "RCV000252402",
          "RCV002054428"
        ],
        "variationId": 8759
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-37815941-C-T",
        "id": "5-37815941-C-T",
        "variant": "5:37815941 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.37815941C>T?assembly=hg19",
        "id": "chr5:g.37815941C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.37815839C>T?assembly=hg38",
        "id": "chr5:g.37815839C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/76466003",
        "rs": 76466003
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-37815941-C-T?dataset=gnomad_r2_1",
        "id": "5-37815941-C-T",
        "variant": "5:37815941 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-37815839-C-T?dataset=gnomad_r3",
        "id": "5-37815839-C-T",
        "variant": "5:37815839 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-37815839-C-T?dataset=gnomad_r4",
        "id": "5-37815839-C-T",
        "variant": "5:37815839 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 37815839,
          "referenceAllele": "C",
          "start": 37815838
        }
      ],
      "hgvs": [
        "NC_000005.10:g.37815839C>T",
        "CM000667.2:g.37815839C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 37815941,
          "referenceAllele": "C",
          "start": 37815940
        }
      ],
      "hgvs": [
        "NC_000005.9:g.37815941C>T",
        "CM000667.1:g.37815941C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 37851698,
          "referenceAllele": "C",
          "start": 37851697
        }
      ],
      "hgvs": [
        "NC_000005.8:g.37851698C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 28842,
          "referenceAllele": "G",
          "start": 28841
        }
      ],
      "hgvs": [
        "NG_011675.2:g.28842G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001891"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1009,
          "referenceAllele": "G",
          "start": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004232",
      "geneNCBI_id": 2668,
      "geneSymbol": "GDNF",
      "hgvs": [
        "ENST00000326524.7:c.448G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000317145.2:p.Asp150Asn",
        "hgvsWellDefined": "ENSP00000317145.2:p.Asp150Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746770",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326524.7:c.448G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000514.4:c.448G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000317145.2:p.Asp150Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000505.1:p.Asp150Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 648,
          "referenceAllele": "G",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004232",
      "geneNCBI_id": 2668,
      "geneSymbol": "GDNF",
      "hgvs": [
        "ENST00000326524.6:c.448G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000317145.2:p.Asp150Asn",
        "hgvsWellDefined": "ENSP00000317145.2:p.Asp150Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258629"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 493,
          "referenceAllele": "G",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004232",
      "geneNCBI_id": 2668,
      "geneSymbol": "GDNF",
      "hgvs": [
        "ENST00000344622.8:c.370G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339703.4:p.Asp124Asn",
        "hgvsWellDefined": "ENSP00000339703.4:p.Asp124Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 590,
          "referenceAllele": "G",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004232",
      "geneNCBI_id": 2668,
      "geneSymbol": "GDNF",
      "hgvs": [
        "ENST00000381826.8:c.421G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371248.4:p.Asp141Asn",
        "hgvsWellDefined": "ENSP00000371248.4:p.Asp141Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273514"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 668,
          "referenceAllele": "G",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004232",
      "geneNCBI_id": 2668,
      "geneSymbol": "GDNF",
      "hgvs": [
        "ENST00000427982.5:c.499G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409007.1:p.Asp167Asn",
        "hgvsWellDefined": "ENSP00000409007.1:p.Asp167Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289971"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 576,
          "referenceAllele": "G",
          "start": 575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004232",
      "geneNCBI_id": 2668,
      "geneSymbol": "GDNF",
      "hgvs": [
        "ENST00000515058.5:c.370G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425928.1:p.Asp124Asn",
        "hgvsWellDefined": "ENSP00000425928.1:p.Asp124Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344395"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 476,
          "referenceAllele": "G",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004232",
      "geneNCBI_id": 2668,
      "geneSymbol": "GDNF",
      "hgvs": [
        "ENST00000620847.1:c.292G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478722.1:p.Asp98Asn",
        "hgvsWellDefined": "ENSP00000478722.1:p.Asp98Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405007"
    },
    {
      "@id": "http://reg.genome.network/allele/PA254548",
      "coordinates": [
        {
          "allele": "A",
          "end": 648,
          "referenceAllele": "G",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004232",
      "geneNCBI_id": 2668,
      "geneSymbol": "GDNF",
      "hgvs": [
        "NM_000514.3:c.448G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000505.1:p.Asp150Asn",
        "hgvsWellDefined": "NP_000505.1:p.Asp150Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006570"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645422837",
      "coordinates": [
        {
          "allele": "A",
          "end": 668,
          "referenceAllele": "G",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004232",
      "geneNCBI_id": 2668,
      "geneSymbol": "GDNF",
      "hgvs": [
        "NM_001190468.1:c.499G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177397.1:p.Asp167Asn",
        "hgvsWellDefined": "NP_001177397.1:p.Asp167Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016190"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826160872",
      "coordinates": [
        {
          "allele": "A",
          "end": 590,
          "referenceAllele": "G",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004232",
      "geneNCBI_id": 2668,
      "geneSymbol": "GDNF",
      "hgvs": [
        "NM_001190469.1:c.421G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177398.1:p.Asp141Asn",
        "hgvsWellDefined": "NP_001177398.1:p.Asp141Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016191"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916009910",
      "coordinates": [
        {
          "allele": "A",
          "end": 476,
          "referenceAllele": "G",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004232",
      "geneNCBI_id": 2668,
      "geneSymbol": "GDNF",
      "hgvs": [
        "NM_001278098.1:c.292G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265027.1:p.Asp98Asn",
        "hgvsWellDefined": "NP_001265027.1:p.Asp98Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021063"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830430731",
      "coordinates": [
        {
          "allele": "A",
          "end": 493,
          "referenceAllele": "G",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004232",
      "geneNCBI_id": 2668,
      "geneSymbol": "GDNF",
      "hgvs": [
        "NM_199231.2:c.370G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_954701.1:p.Asp124Asn",
        "hgvsWellDefined": "NP_954701.1:p.Asp124Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044879"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 561,
          "referenceAllele": "G",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004232",
      "geneNCBI_id": 2668,
      "geneSymbol": "GDNF",
      "hgvs": [
        "XM_011514028.1:c.448G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512330.1:p.Asp150Asn",
        "hgvsWellDefined": "XP_011512330.1:p.Asp150Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081254"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 519,
          "referenceAllele": "G",
          "start": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004232",
      "geneNCBI_id": 2668,
      "geneSymbol": "GDNF",
      "hgvs": [
        "XM_011514029.1:c.448G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512331.1:p.Asp150Asn",
        "hgvsWellDefined": "XP_011512331.1:p.Asp150Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081255"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 356,
          "referenceAllele": "G",
          "start": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004232",
      "geneNCBI_id": 2668,
      "geneSymbol": "GDNF",
      "hgvs": [
        "XM_011514030.1:c.292G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512332.1:p.Asp98Asn",
        "hgvsWellDefined": "XP_011512332.1:p.Asp98Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081256"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 361,
          "referenceAllele": "G",
          "start": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004232",
      "geneNCBI_id": 2668,
      "geneSymbol": "GDNF",
      "hgvs": [
        "XM_011514030.3:c.292G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512332.1:p.Asp98Asn",
        "hgvsWellDefined": "XP_011512332.1:p.Asp98Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543145"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 934,
          "referenceAllele": "G",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004232",
      "geneNCBI_id": 2668,
      "geneSymbol": "GDNF",
      "hgvs": [
        "XM_017009337.2:c.370G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864826.1:p.Asp124Asn",
        "hgvsWellDefined": "XP_016864826.1:p.Asp124Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563680"
    },
    {
      "@id": "http://reg.genome.network/allele/PA254548",
      "coordinates": [
        {
          "allele": "A",
          "end": 1009,
          "referenceAllele": "G",
          "start": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004232",
      "geneNCBI_id": 2668,
      "geneSymbol": "GDNF",
      "hgvs": [
        "NM_000514.4:c.448G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000505.1:p.Asp150Asn",
        "hgvsWellDefined": "NP_000505.1:p.Asp150Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662467",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326524.7:c.448G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000514.4:c.448G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000317145.2:p.Asp150Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000505.1:p.Asp150Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}