{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA144145", "communityStandardTitle": [ "NM_000274.4(OAT):c.272G>A (p.Gly91Glu)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=70760[alleleid]", "alleleId": 70760, "preferredName": "NM_000274.4(OAT):c.272G>A (p.Gly91Glu)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/56121", "RCV": [ "RCV000049530", "RCV003330418", "RCV003905013" ], "variationId": 56121 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/10-126097462-C-T", "id": "10-126097462-C-T", "variant": "10:126097462 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.126097462C>T?assembly=hg19", "id": "chr10:g.126097462C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.124408893C>T?assembly=hg38", "id": "chr10:g.124408893C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/386833603", "rs": 386833603 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-126097462-C-T?dataset=gnomad_r2_1", "id": "10-126097462-C-T", "variant": "10:126097462 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-124408893-C-T?dataset=gnomad_r3", "id": "10-124408893-C-T", "variant": "10:124408893 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-124408893-C-T?dataset=gnomad_r4", "id": "10-124408893-C-T", "variant": "10:124408893 C / T" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 124408893, "referenceAllele": "C", "start": 124408892 } ], "hgvs": [ "NC_000010.11:g.124408893C>T", "CM000672.2:g.124408893C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 126097462, "referenceAllele": "C", "start": 126097461 } ], "hgvs": [ "NC_000010.10:g.126097462C>T", "CM000672.1:g.126097462C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 126087452, "referenceAllele": "C", "start": 126087451 } ], "hgvs": [ "NC_000010.9:g.126087452C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "A", "end": 15058, "referenceAllele": "G", "start": 15057 } ], "hgvs": [ "NG_008861.1:g.15058G>A", "LRG_685:g.15058G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001256" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 352, "referenceAllele": "G", "start": 351 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "ENST00000368845.6:c.272G>A" ], "proteinEffect": { "hgvs": "ENSP00000357838.5:p.Gly91Glu", "hgvsWellDefined": "ENSP00000357838.5:p.Gly91Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS750301", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000368845.6:c.272G>A" }, "RefSeq": { "hgvs": "NM_000274.4:c.272G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000357838.5:p.Gly91Glu" }, "RefSeq": { "hgvs": "NP_000265.1:p.Gly91Glu" } } } }, { "coordinates": [ { "allele": "A", "end": 365, "referenceAllele": "G", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "ENST00000368845.5:c.272G>A" ], "proteinEffect": { "hgvs": "ENSP00000357838.5:p.Gly91Glu", "hgvsWellDefined": "ENSP00000357838.5:p.Gly91Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS267213" }, { "coordinates": [ { "allele": "A", "end": 337, "referenceAllele": "G", "start": 336 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "ENST00000476917.5:n.337G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS317854" }, { "coordinates": [ { "allele": "A", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "ENST00000490096.5:n.508G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS328009" }, { "coordinates": [ { "allele": "A", "end": 620, "referenceAllele": "G", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "ENST00000492376.1:n.620G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS329770" }, { "coordinates": [ { "allele": "A", "end": 177, "referenceAllele": "G", "start": 176 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "ENST00000539214.5:c.-143G>A" ], "proteinEffect": { "hgvs": "ENSP00000439042.1:n.-143G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS361734" }, { "@id": "http://reg.genome.network/allele/PA144147", "coordinates": [ { "allele": "A", "end": 405, "referenceAllele": "G", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_000274.3:c.272G>A", "LRG_685t1:c.272G>A" ], "proteinEffect": { "hgvs": "NP_000265.1:p.Gly91Glu", "hgvsWellDefined": "NP_000265.1:p.Gly91Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS006336" }, { "coordinates": [ { "allele": "A", "end": 177, "referenceAllele": "G", "start": 176 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001171814.1:c.-143G>A" ], "proteinEffect": { "hgvs": "NP_001165285.1:n.-143G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS015368" }, { "coordinates": [ { "allele": "A", "end": 439, "referenceAllele": "G", "start": 438 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "XM_006717871.2:c.272G>A" ], "proteinEffect": { "hgvs": "XP_006717934.1:p.Gly91Glu", "hgvsWellDefined": "XP_006717934.1:p.Gly91Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS072355" }, { "coordinates": [ { "allele": "A", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "XM_011539833.1:c.272G>A" ], "proteinEffect": { "hgvs": "XP_011538135.1:p.Gly91Glu", "hgvsWellDefined": "XP_011538135.1:p.Gly91Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS106783" }, { "coordinates": [ { "allele": "A", "end": 421, "referenceAllele": "G", "start": 420 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "XM_011539834.1:c.272G>A" ], "proteinEffect": { "hgvs": "XP_011538136.1:p.Gly91Glu", "hgvsWellDefined": "XP_011538136.1:p.Gly91Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS106784" }, { "@id": "http://reg.genome.network/allele/PA2827180834", "coordinates": [ { "allele": "A", "end": 400, "referenceAllele": "G", "start": 399 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322965.1:c.272G>A" ], "proteinEffect": { "hgvs": "NP_001309894.1:p.Gly91Glu", "hgvsWellDefined": "NP_001309894.1:p.Gly91Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS515201" }, { "@id": "http://reg.genome.network/allele/PA2827181197", "coordinates": [ { "allele": "A", "end": 720, "referenceAllele": "G", "start": 719 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322966.1:c.272G>A" ], "proteinEffect": { "hgvs": "NP_001309895.1:p.Gly91Glu", "hgvsWellDefined": "NP_001309895.1:p.Gly91Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS515202" }, { "@id": "http://reg.genome.network/allele/PA2827181560", "coordinates": [ { "allele": "A", "end": 525, "referenceAllele": "G", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322967.1:c.272G>A" ], "proteinEffect": { "hgvs": "NP_001309896.1:p.Gly91Glu", "hgvsWellDefined": "NP_001309896.1:p.Gly91Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS515203" }, { "@id": "http://reg.genome.network/allele/PA2827181923", "coordinates": [ { "allele": "A", "end": 612, "referenceAllele": "G", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322968.1:c.272G>A" ], "proteinEffect": { "hgvs": "NP_001309897.1:p.Gly91Glu", "hgvsWellDefined": "NP_001309897.1:p.Gly91Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS515204" }, { "@id": "http://reg.genome.network/allele/PA2827182286", "coordinates": [ { "allele": "A", "end": 492, "referenceAllele": "G", "start": 491 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322969.1:c.272G>A" ], "proteinEffect": { "hgvs": "NP_001309898.1:p.Gly91Glu", "hgvsWellDefined": "NP_001309898.1:p.Gly91Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS515205" }, { "@id": "http://reg.genome.network/allele/PA916026727", "coordinates": [ { "allele": "A", "end": 708, "referenceAllele": "G", "start": 707 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322970.1:c.272G>A" ], "proteinEffect": { "hgvs": "NP_001309899.1:p.Gly91Glu", "hgvsWellDefined": "NP_001309899.1:p.Gly91Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS515206" }, { "coordinates": [ { "allele": "A", "end": 332, "endIntronDirection": "+", "endIntronOffset": 3080, "referenceAllele": "G", "start": 332, "startIntronDirection": "+", "startIntronOffset": 3079 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322971.1:c.199+3080G>A" ], "proteinEffect": { "hgvs": "NP_001309900.1:n.199+3080G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS515207" }, { "coordinates": [ { "allele": "A", "end": 177, "referenceAllele": "G", "start": 176 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322974.1:c.-443G>A" ], "proteinEffect": { "hgvs": "NP_001309903.1:n.-443G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS515208" }, { "coordinates": [ { "allele": "A", "end": 347, "referenceAllele": "G", "start": 346 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "XM_017016279.1:c.-2182G>A" ], "proteinEffect": { "hgvs": "XP_016871768.1:n.-2182G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS568769" }, { "@id": "http://reg.genome.network/allele/PA144147", "coordinates": [ { "allele": "A", "end": 352, "referenceAllele": "G", "start": 351 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_000274.4:c.272G>A" ], "proteinEffect": { "hgvs": "NP_000265.1:p.Gly91Glu", "hgvsWellDefined": "NP_000265.1:p.Gly91Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS674772", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000368845.6:c.272G>A" }, "RefSeq": { "hgvs": "NM_000274.4:c.272G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000357838.5:p.Gly91Glu" }, "RefSeq": { "hgvs": "NP_000265.1:p.Gly91Glu" } } } }, { "@id": "http://reg.genome.network/allele/PA2827180834", "coordinates": [ { "allele": "A", "end": 347, "referenceAllele": "G", "start": 346 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322965.2:c.272G>A" ], "proteinEffect": { "hgvs": "NP_001309894.1:p.Gly91Glu", "hgvsWellDefined": "NP_001309894.1:p.Gly91Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS685878" }, { "@id": "http://reg.genome.network/allele/PA2827181197", "coordinates": [ { "allele": "A", "end": 667, "referenceAllele": "G", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322966.2:c.272G>A" ], "proteinEffect": { "hgvs": "NP_001309895.1:p.Gly91Glu", "hgvsWellDefined": "NP_001309895.1:p.Gly91Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS685879" }, { "@id": "http://reg.genome.network/allele/PA2827181560", "coordinates": [ { "allele": "A", "end": 472, "referenceAllele": "G", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322967.2:c.272G>A" ], "proteinEffect": { "hgvs": "NP_001309896.1:p.Gly91Glu", "hgvsWellDefined": "NP_001309896.1:p.Gly91Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS685880" }, { "@id": "http://reg.genome.network/allele/PA2827181923", "coordinates": [ { "allele": "A", "end": 559, "referenceAllele": "G", "start": 558 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322968.2:c.272G>A" ], "proteinEffect": { "hgvs": "NP_001309897.1:p.Gly91Glu", "hgvsWellDefined": "NP_001309897.1:p.Gly91Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS685881" }, { "@id": "http://reg.genome.network/allele/PA2827182286", "coordinates": [ { "allele": "A", "end": 439, "referenceAllele": "G", "start": 438 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322969.2:c.272G>A" ], "proteinEffect": { "hgvs": "NP_001309898.1:p.Gly91Glu", "hgvsWellDefined": "NP_001309898.1:p.Gly91Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS685882" }, { "@id": "http://reg.genome.network/allele/PA916026727", "coordinates": [ { "allele": "A", "end": 655, "referenceAllele": "G", "start": 654 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322970.2:c.272G>A" ], "proteinEffect": { "hgvs": "NP_001309899.1:p.Gly91Glu", "hgvsWellDefined": "NP_001309899.1:p.Gly91Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS685883" }, { "coordinates": [ { "allele": "A", "end": 279, "endIntronDirection": "+", "endIntronOffset": 3080, "referenceAllele": "G", "start": 279, "startIntronDirection": "+", "startIntronOffset": 3079 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322971.2:c.199+3080G>A" ], "proteinEffect": { "hgvs": "NP_001309900.1:n.199+3080G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS685884" }, { "coordinates": [ { "allele": "A", "end": 124, "referenceAllele": "G", "start": 123 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322974.2:c.-443G>A" ], "proteinEffect": { "hgvs": "NP_001309903.1:n.-443G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS685885" }, { "coordinates": [ { "allele": "A", "end": 124, "referenceAllele": "G", "start": 123 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001171814.2:c.-143G>A" ], "proteinEffect": { "hgvs": "NP_001165285.1:n.-143G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS713386" } ], "type": "nucleotide" }