{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA113931", "communityStandardTitle": [ "NM_000274.4(OAT):c.539G>C (p.Arg180Thr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15192[alleleid]", "alleleId": 15192, "preferredName": "NM_000274.4(OAT):c.539G>C (p.Arg180Thr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/153", "RCV": [ "RCV000000176" ], "variationId": 153 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/10-126094114-C-G", "id": "10-126094114-C-G", "variant": "10:126094114 C / G" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.126094114C>G?assembly=hg19", "id": "chr10:g.126094114C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.124405545C>G?assembly=hg38", "id": "chr10:g.124405545C>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121965040", "rs": 121965040 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-126094114-C-G?dataset=gnomad_r2_1", "id": "10-126094114-C-G", "variant": "10:126094114 C / G" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-124405545-C-G?dataset=gnomad_r3", "id": "10-124405545-C-G", "variant": "10:124405545 C / G" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-124405545-C-G?dataset=gnomad_r4", "id": "10-124405545-C-G", "variant": "10:124405545 C / G" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "G", "end": 124405545, "referenceAllele": "C", "start": 124405544 } ], "hgvs": [ "NC_000010.11:g.124405545C>G", "CM000672.2:g.124405545C>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "G", "end": 126094114, "referenceAllele": "C", "start": 126094113 } ], "hgvs": [ "NC_000010.10:g.126094114C>G", "CM000672.1:g.126094114C>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "G", "end": 126084104, "referenceAllele": "C", "start": 126084103 } ], "hgvs": [ "NC_000010.9:g.126084104C>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "C", "end": 18406, "referenceAllele": "G", "start": 18405 } ], "hgvs": [ "NG_008861.1:g.18406G>C", "LRG_685:g.18406G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS001256" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 619, "referenceAllele": "G", "start": 618 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "ENST00000368845.6:c.539G>C" ], "proteinEffect": { "hgvs": "ENSP00000357838.5:p.Arg180Thr", "hgvsWellDefined": "ENSP00000357838.5:p.Arg180Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS750301", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000368845.6:c.539G>C" }, "RefSeq": { "hgvs": "NM_000274.4:c.539G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000357838.5:p.Arg180Thr" }, "RefSeq": { "hgvs": "NP_000265.1:p.Arg180Thr" } } } }, { "coordinates": [ { "allele": "C", "end": 632, "referenceAllele": "G", "start": 631 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "ENST00000368845.5:c.539G>C" ], "proteinEffect": { "hgvs": "ENSP00000357838.5:p.Arg180Thr", "hgvsWellDefined": "ENSP00000357838.5:p.Arg180Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS267213" }, { "coordinates": [ { "allele": "C", "end": 340, "referenceAllele": "G", "start": 339 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "ENST00000467675.5:n.340G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS310769" }, { "coordinates": [ { "allele": "C", "end": 385, "referenceAllele": "G", "start": 384 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "ENST00000483711.1:n.385G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS323120" }, { "coordinates": [ { "allele": "C", "end": 444, "referenceAllele": "G", "start": 443 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "ENST00000539214.5:c.125G>C" ], "proteinEffect": { "hgvs": "ENSP00000439042.1:p.Arg42Thr", "hgvsWellDefined": "ENSP00000439042.1:p.Arg42Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS361734" }, { "@id": "http://reg.genome.network/allele/PA103792", "coordinates": [ { "allele": "C", "end": 672, "referenceAllele": "G", "start": 671 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_000274.3:c.539G>C", "LRG_685t1:c.539G>C" ], "proteinEffect": { "hgvs": "NP_000265.1:p.Arg180Thr", "hgvsWellDefined": "NP_000265.1:p.Arg180Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS006336" }, { "@id": "http://reg.genome.network/allele/PA113933", "coordinates": [ { "allele": "C", "end": 444, "referenceAllele": "G", "start": 443 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001171814.1:c.125G>C" ], "proteinEffect": { "hgvs": "NP_001165285.1:p.Arg42Thr", "hgvsWellDefined": "NP_001165285.1:p.Arg42Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS015368" }, { "coordinates": [ { "allele": "C", "end": 706, "referenceAllele": "G", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "XM_006717871.2:c.539G>C" ], "proteinEffect": { "hgvs": "XP_006717934.1:p.Arg180Thr", "hgvsWellDefined": "XP_006717934.1:p.Arg180Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS072355" }, { "coordinates": [ { "allele": "C", "end": 775, "referenceAllele": "G", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "XM_011539833.1:c.539G>C" ], "proteinEffect": { "hgvs": "XP_011538135.1:p.Arg180Thr", "hgvsWellDefined": "XP_011538135.1:p.Arg180Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS106783" }, { "coordinates": [ { "allele": "C", "end": 688, "referenceAllele": "G", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "XM_011539834.1:c.539G>C" ], "proteinEffect": { "hgvs": "XP_011538136.1:p.Arg180Thr", "hgvsWellDefined": "XP_011538136.1:p.Arg180Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS106784" }, { "@id": "http://reg.genome.network/allele/PA2827180902", "coordinates": [ { "allele": "C", "end": 667, "referenceAllele": "G", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322965.1:c.539G>C" ], "proteinEffect": { "hgvs": "NP_001309894.1:p.Arg180Thr", "hgvsWellDefined": "NP_001309894.1:p.Arg180Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS515201" }, { "@id": "http://reg.genome.network/allele/PA2827181266", "coordinates": [ { "allele": "C", "end": 987, "referenceAllele": "G", "start": 986 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322966.1:c.539G>C" ], "proteinEffect": { "hgvs": "NP_001309895.1:p.Arg180Thr", "hgvsWellDefined": "NP_001309895.1:p.Arg180Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS515202" }, { "@id": "http://reg.genome.network/allele/PA2827181628", "coordinates": [ { "allele": "C", "end": 792, "referenceAllele": "G", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322967.1:c.539G>C" ], "proteinEffect": { "hgvs": "NP_001309896.1:p.Arg180Thr", "hgvsWellDefined": "NP_001309896.1:p.Arg180Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS515203" }, { "@id": "http://reg.genome.network/allele/PA2827181992", "coordinates": [ { "allele": "C", "end": 879, "referenceAllele": "G", "start": 878 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322968.1:c.539G>C" ], "proteinEffect": { "hgvs": "NP_001309897.1:p.Arg180Thr", "hgvsWellDefined": "NP_001309897.1:p.Arg180Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS515204" }, { "@id": "http://reg.genome.network/allele/PA2827182355", "coordinates": [ { "allele": "C", "end": 759, "referenceAllele": "G", "start": 758 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322969.1:c.539G>C" ], "proteinEffect": { "hgvs": "NP_001309898.1:p.Arg180Thr", "hgvsWellDefined": "NP_001309898.1:p.Arg180Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS515205" }, { "@id": "http://reg.genome.network/allele/PA2827182696", "coordinates": [ { "allele": "C", "end": 975, "referenceAllele": "G", "start": 974 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322970.1:c.539G>C" ], "proteinEffect": { "hgvs": "NP_001309899.1:p.Arg180Thr", "hgvsWellDefined": "NP_001309899.1:p.Arg180Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS515206" }, { "@id": "http://reg.genome.network/allele/PA916026767", "coordinates": [ { "allele": "C", "end": 351, "referenceAllele": "G", "start": 350 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322971.1:c.218G>C" ], "proteinEffect": { "hgvs": "NP_001309900.1:p.Arg73Thr", "hgvsWellDefined": "NP_001309900.1:p.Arg73Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS515207" }, { "coordinates": [ { "allele": "C", "end": 558, "referenceAllele": "G", "start": 557 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322974.1:c.-62G>C" ], "proteinEffect": { "hgvs": "NP_001309903.1:n.-62G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS515208" }, { "coordinates": [ { "allele": "C", "end": 2467, "referenceAllele": "G", "start": 2466 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "XM_017016279.1:c.-62G>C" ], "proteinEffect": { "hgvs": "XP_016871768.1:n.-62G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS568769" }, { "@id": "http://reg.genome.network/allele/PA103792", "coordinates": [ { "allele": "C", "end": 619, "referenceAllele": "G", "start": 618 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_000274.4:c.539G>C" ], "proteinEffect": { "hgvs": "NP_000265.1:p.Arg180Thr", "hgvsWellDefined": "NP_000265.1:p.Arg180Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS674772", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000368845.6:c.539G>C" }, "RefSeq": { "hgvs": "NM_000274.4:c.539G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000357838.5:p.Arg180Thr" }, "RefSeq": { "hgvs": "NP_000265.1:p.Arg180Thr" } } } }, { "@id": "http://reg.genome.network/allele/PA2827180902", "coordinates": [ { "allele": "C", "end": 614, "referenceAllele": "G", "start": 613 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322965.2:c.539G>C" ], "proteinEffect": { "hgvs": "NP_001309894.1:p.Arg180Thr", "hgvsWellDefined": "NP_001309894.1:p.Arg180Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS685878" }, { "@id": "http://reg.genome.network/allele/PA2827181266", "coordinates": [ { "allele": "C", "end": 934, "referenceAllele": "G", "start": 933 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322966.2:c.539G>C" ], "proteinEffect": { "hgvs": "NP_001309895.1:p.Arg180Thr", "hgvsWellDefined": "NP_001309895.1:p.Arg180Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS685879" }, { "@id": "http://reg.genome.network/allele/PA2827181628", "coordinates": [ { "allele": "C", "end": 739, "referenceAllele": "G", "start": 738 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322967.2:c.539G>C" ], "proteinEffect": { "hgvs": "NP_001309896.1:p.Arg180Thr", "hgvsWellDefined": "NP_001309896.1:p.Arg180Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS685880" }, { "@id": "http://reg.genome.network/allele/PA2827181992", "coordinates": [ { "allele": "C", "end": 826, "referenceAllele": "G", "start": 825 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322968.2:c.539G>C" ], "proteinEffect": { "hgvs": "NP_001309897.1:p.Arg180Thr", "hgvsWellDefined": "NP_001309897.1:p.Arg180Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS685881" }, { "@id": "http://reg.genome.network/allele/PA2827182355", "coordinates": [ { "allele": "C", "end": 706, "referenceAllele": "G", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322969.2:c.539G>C" ], "proteinEffect": { "hgvs": "NP_001309898.1:p.Arg180Thr", "hgvsWellDefined": "NP_001309898.1:p.Arg180Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS685882" }, { "@id": "http://reg.genome.network/allele/PA2827182696", "coordinates": [ { "allele": "C", "end": 922, "referenceAllele": "G", "start": 921 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322970.2:c.539G>C" ], "proteinEffect": { "hgvs": "NP_001309899.1:p.Arg180Thr", "hgvsWellDefined": "NP_001309899.1:p.Arg180Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS685883" }, { "@id": "http://reg.genome.network/allele/PA916026767", "coordinates": [ { "allele": "C", "end": 298, "referenceAllele": "G", "start": 297 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322971.2:c.218G>C" ], "proteinEffect": { "hgvs": "NP_001309900.1:p.Arg73Thr", "hgvsWellDefined": "NP_001309900.1:p.Arg73Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS685884" }, { "coordinates": [ { "allele": "C", "end": 505, "referenceAllele": "G", "start": 504 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322974.2:c.-62G>C" ], "proteinEffect": { "hgvs": "NP_001309903.1:n.-62G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS685885" }, { "@id": "http://reg.genome.network/allele/PA113933", "coordinates": [ { "allele": "C", "end": 391, "referenceAllele": "G", "start": 390 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001171814.2:c.125G>C" ], "proteinEffect": { "hgvs": "NP_001165285.1:p.Arg42Thr", "hgvsWellDefined": "NP_001165285.1:p.Arg42Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS713386" } ], "type": "nucleotide" }