{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA376552761", "communityStandardTitle": [ "NM_020975.6(RET):c.1828A>C (p.Asn610His)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=993816[alleleid]", "alleleId": 993816, "preferredName": "NM_020975.6(RET):c.1828A>C (p.Asn610His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1008125", "RCV": [ "RCV001305413", "RCV001535690", "RCV001824949", "RCV002411977" ], "variationId": 1008125 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.43609072A>C?assembly=hg19", "id": "chr10:g.43609072A>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.43113624A>C?assembly=hg38", "id": "chr10:g.43113624A>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1837994023", "rs": 1837994023 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-43113624-A-C?dataset=gnomad_r4", "id": "10-43113624-A-C", "variant": "10:43113624 A / C" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "C", "end": 43113624, "referenceAllele": "A", "start": 43113623 } ], "hgvs": [ "NC_000010.11:g.43113624A>C", "CM000672.2:g.43113624A>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "C", "end": 43609072, "referenceAllele": "A", "start": 43609071 } ], "hgvs": [ "NC_000010.10:g.43609072A>C", "CM000672.1:g.43609072A>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "C", "end": 42929078, "referenceAllele": "A", "start": 42929077 } ], "hgvs": [ "NC_000010.9:g.42929078A>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "C", "end": 41556, "referenceAllele": "A", "start": 41555 } ], "hgvs": [ "NG_007489.1:g.41556A>C", "LRG_518:g.41556A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS000611" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 1605, "referenceAllele": "A", "start": 1604 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000615310.5:c.1432A>C" ], "proteinEffect": { "hgvs": "ENSP00000480088.2:p.Asn478His", "hgvsWellDefined": "ENSP00000480088.2:p.Asn478His" }, "referenceSequence": "http://reg.genome.network/refseq/RS826472" }, { "coordinates": [ { "allele": "C", "end": 1402, "referenceAllele": "A", "start": 1401 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000683007.1:n.1402A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS827994" }, { "coordinates": [ { "allele": "C", "end": 589, "referenceAllele": "A", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000683872.1:n.589A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS828839" }, { "coordinates": [ { "allele": "C", "end": 2018, "referenceAllele": "A", "start": 2017 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000340058.6:c.1828A>C" ], "proteinEffect": { "hgvs": "ENSP00000344798.4:p.Asn610His", "hgvsWellDefined": "ENSP00000344798.4:p.Asn610His" }, "referenceSequence": "http://reg.genome.network/refseq/RS747868" }, { "coordinates": [ { "allele": "C", "end": 2018, "referenceAllele": "A", "start": 2017 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000355710.8:c.1828A>C" ], "proteinEffect": { "hgvs": "ENSP00000347942.3:p.Asn610His", "hgvsWellDefined": "ENSP00000347942.3:p.Asn610His" }, "referenceSequence": "http://reg.genome.network/refseq/RS748710", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355710.8:c.1828A>C" }, "RefSeq": { "hgvs": "NM_020975.6:c.1828A>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347942.3:p.Asn610His" }, "RefSeq": { "hgvs": "NP_066124.1:p.Asn610His" } } } }, { "coordinates": [ { "allele": "C", "end": 1385, "referenceAllele": "A", "start": 1384 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000671844.1:c.*422A>C" ], "proteinEffect": { "hgvs": "ENSP00000500541.1:n.*422A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS773184" }, { "coordinates": [ { "allele": "C", "end": 828, "referenceAllele": "A", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000672389.1:c.*422A>C" ], "proteinEffect": { "hgvs": "ENSP00000500252.1:n.*422A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS773367" }, { "coordinates": [ { "allele": "C", "end": 2008, "referenceAllele": "A", "start": 2007 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000340058.5:c.1828A>C" ], "proteinEffect": { "hgvs": "ENSP00000344798.4:p.Asn610His", "hgvsWellDefined": "ENSP00000344798.4:p.Asn610His" }, "referenceSequence": "http://reg.genome.network/refseq/RS247408" }, { "coordinates": [ { "allele": "C", "end": 2060, "referenceAllele": "A", "start": 2059 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000355710.7:c.1828A>C" ], "proteinEffect": { "hgvs": "ENSP00000347942.3:p.Asn610His", "hgvsWellDefined": "ENSP00000347942.3:p.Asn610His" }, "referenceSequence": "http://reg.genome.network/refseq/RS247251" }, { "coordinates": [ { "allele": "C", "end": 564, "referenceAllele": "A", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000498820.5:c.379A>C" ], "proteinEffect": { "hgvs": "ENSP00000419080.1:p.Asn127His", "hgvsWellDefined": "ENSP00000419080.1:p.Asn127His" }, "referenceSequence": "http://reg.genome.network/refseq/RS247185" }, { "coordinates": [ { "allele": "C", "end": 1479, "endIntronDirection": "+", "endIntronOffset": 2392, "referenceAllele": "A", "start": 1479, "startIntronDirection": "+", "startIntronOffset": 2391 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000615310.4:c.1289+2392A>C" ], "proteinEffect": { "hgvs": "ENSP00000480088.1:n.1289+2392A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS402558" }, { "@id": "http://reg.genome.network/allele/PA2829941532", "coordinates": [ { "allele": "C", "end": 2018, "referenceAllele": "A", "start": 2017 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020630.4:c.1828A>C", "LRG_518t2:c.1828A>C" ], "proteinEffect": { "hgvs": "NP_065681.1:p.Asn610His", "hgvsWellDefined": "NP_065681.1:p.Asn610His" }, "referenceSequence": "http://reg.genome.network/refseq/RS036456" }, { "@id": "http://reg.genome.network/allele/PA2499287456", "coordinates": [ { "allele": "C", "end": 2018, "referenceAllele": "A", "start": 2017 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020975.4:c.1828A>C", "LRG_518t1:c.1828A>C" ], "proteinEffect": { "hgvs": "NP_066124.1:p.Asn610His", "hgvsWellDefined": "NP_066124.1:p.Asn610His" }, "referenceSequence": "http://reg.genome.network/refseq/RS036733" }, { "coordinates": [ { "allele": "C", "end": 2060, "referenceAllele": "A", "start": 2059 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "XM_011540027.1:c.1828A>C" ], "proteinEffect": { "hgvs": "XP_011538329.1:p.Asn610His", "hgvsWellDefined": "XP_011538329.1:p.Asn610His" }, "referenceSequence": "http://reg.genome.network/refseq/RS106977" }, { "@id": "http://reg.genome.network/allele/PA2828047482", "coordinates": [ { "allele": "C", "end": 1423, "referenceAllele": "A", "start": 1422 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_001355216.1:c.1066A>C" ], "proteinEffect": { "hgvs": "NP_001342145.1:p.Asn356His", "hgvsWellDefined": "NP_001342145.1:p.Asn356His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522845" }, { "@id": "http://reg.genome.network/allele/PA2829941532", "coordinates": [ { "allele": "C", "end": 2060, "referenceAllele": "A", "start": 2059 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020630.5:c.1828A>C" ], "proteinEffect": { "hgvs": "NP_065681.1:p.Asn610His", "hgvsWellDefined": "NP_065681.1:p.Asn610His" }, "referenceSequence": "http://reg.genome.network/refseq/RS525983" }, { "@id": "http://reg.genome.network/allele/PA2499287456", "coordinates": [ { "allele": "C", "end": 2060, "referenceAllele": "A", "start": 2059 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020975.5:c.1828A>C" ], "proteinEffect": { "hgvs": "NP_066124.1:p.Asn610His", "hgvsWellDefined": "NP_066124.1:p.Asn610His" }, "referenceSequence": "http://reg.genome.network/refseq/RS526025" }, { "@id": "http://reg.genome.network/allele/PA2499287456", "coordinates": [ { "allele": "C", "end": 2018, "referenceAllele": "A", "start": 2017 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020975.6:c.1828A>C" ], "proteinEffect": { "hgvs": "NP_066124.1:p.Asn610His", "hgvsWellDefined": "NP_066124.1:p.Asn610His" }, "referenceSequence": "http://reg.genome.network/refseq/RS670171", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355710.8:c.1828A>C" }, "RefSeq": { "hgvs": "NM_020975.6:c.1828A>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347942.3:p.Asn610His" }, "RefSeq": { "hgvs": "NP_066124.1:p.Asn610His" } } } }, { "@id": "http://reg.genome.network/allele/PA2829941532", "coordinates": [ { "allele": "C", "end": 2018, "referenceAllele": "A", "start": 2017 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020630.6:c.1828A>C" ], "proteinEffect": { "hgvs": "NP_065681.1:p.Asn610His", "hgvsWellDefined": "NP_065681.1:p.Asn610His" }, "referenceSequence": "http://reg.genome.network/refseq/RS728447" } ], "type": "nucleotide" }