{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA275703",
  "communityStandardTitle": [
    "NM_000030.3(AGXT):c.518G>A (p.Cys173Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=200505[alleleid]",
        "alleleId": 200505,
        "preferredName": "NM_000030.3(AGXT):c.518G>A (p.Cys173Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/204108",
        "RCV": [
          "RCV000186314"
        ],
        "variationId": 204108
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.241810860G>A?assembly=hg19",
        "id": "chr2:g.241810860G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.240871443G>A?assembly=hg38",
        "id": "chr2:g.240871443G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/180177231",
        "rs": 180177231
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-240871443-G-A?dataset=gnomad_r4",
        "id": "2-240871443-G-A",
        "variant": "2:240871443 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 240871443,
          "referenceAllele": "G",
          "start": 240871442
        }
      ],
      "hgvs": [
        "NC_000002.12:g.240871443G>A",
        "CM000664.2:g.240871443G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 241810860,
          "referenceAllele": "G",
          "start": 241810859
        }
      ],
      "hgvs": [
        "NC_000002.11:g.241810860G>A",
        "CM000664.1:g.241810860G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 241459533,
          "referenceAllele": "G",
          "start": 241459532
        }
      ],
      "hgvs": [
        "NC_000002.10:g.241459533G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7699,
          "referenceAllele": "G",
          "start": 7698
        }
      ],
      "hgvs": [
        "NG_008005.1:g.7699G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000769"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 560,
          "referenceAllele": "G",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000341",
      "geneNCBI_id": 189,
      "geneSymbol": "AGXT",
      "hgvs": [
        "ENST00000307503.4:c.518G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302620.3:p.Cys173Tyr",
        "hgvsWellDefined": "ENSP00000302620.3:p.Cys173Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745375",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307503.4:c.518G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000030.3:c.518G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302620.3:p.Cys173Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000021.1:p.Cys173Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 905,
          "referenceAllele": "G",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000341",
      "geneNCBI_id": 189,
      "geneSymbol": "AGXT",
      "hgvs": [
        "ENST00000307503.3:c.518G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302620.3:p.Cys173Tyr",
        "hgvsWellDefined": "ENSP00000302620.3:p.Cys173Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255901"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 538,
          "referenceAllele": "G",
          "start": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000341",
      "geneNCBI_id": 189,
      "geneSymbol": "AGXT",
      "hgvs": [
        "ENST00000472436.1:n.538G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314405"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 255,
          "referenceAllele": "G",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000341",
      "geneNCBI_id": 189,
      "geneSymbol": "AGXT",
      "hgvs": [
        "ENST00000476698.1:n.255G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317686"
    },
    {
      "@id": "http://reg.genome.network/allele/PA091307",
      "coordinates": [
        {
          "allele": "A",
          "end": 639,
          "referenceAllele": "G",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000341",
      "geneNCBI_id": 189,
      "geneSymbol": "AGXT",
      "hgvs": [
        "NM_000030.2:c.518G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000021.1:p.Cys173Tyr",
        "hgvsWellDefined": "NP_000021.1:p.Cys173Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006095"
    },
    {
      "@id": "http://reg.genome.network/allele/PA091307",
      "coordinates": [
        {
          "allele": "A",
          "end": 560,
          "referenceAllele": "G",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000341",
      "geneNCBI_id": 189,
      "geneSymbol": "AGXT",
      "hgvs": [
        "NM_000030.3:c.518G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000021.1:p.Cys173Tyr",
        "hgvsWellDefined": "NP_000021.1:p.Cys173Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662292",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307503.4:c.518G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000030.3:c.518G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302620.3:p.Cys173Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000021.1:p.Cys173Tyr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}