{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA345637", "communityStandardTitle": [ "NM_031448.6(C19orf12):c.172G>A (p.Gly58Arg)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=40114[alleleid]", "alleleId": 40114, "preferredName": "NM_031448.6(C19orf12):c.172G>A (p.Gly58Arg)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/31157", "RCV": [ "RCV000024153", "RCV000414809", "RCV000528859", "RCV001781312", "RCV003230372" ], "variationId": 31157 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/19-30193873-C-T", "id": "19-30193873-C-T", "variant": "19:30193873 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.30193873C>T?assembly=hg19", "id": "chr19:g.30193873C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.29702966C>T?assembly=hg38", "id": "chr19:g.29702966C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/515726205", "rs": 515726205 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-30193873-C-T?dataset=gnomad_r2_1", "id": "19-30193873-C-T", "variant": "19:30193873 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-29702966-C-T?dataset=gnomad_r3", "id": "19-29702966-C-T", "variant": "19:29702966 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-29702966-C-T?dataset=gnomad_r4", "id": "19-29702966-C-T", "variant": "19:29702966 C / T" } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 29702966, "referenceAllele": "C", "start": 29702965 } ], "hgvs": [ "NC_000019.10:g.29702966C>T", "CM000681.2:g.29702966C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 30193873, "referenceAllele": "C", "start": 30193872 } ], "hgvs": [ "NC_000019.9:g.30193873C>T", "CM000681.1:g.30193873C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 34885713, "referenceAllele": "C", "start": 34885712 } ], "hgvs": [ "NC_000019.8:g.34885713C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "A", "end": 17824, "referenceAllele": "G", "start": 17823 } ], "hgvs": [ "NG_031970.1:g.17824G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005066" }, { "coordinates": [ { "allele": "A", "end": 17824, "referenceAllele": "G", "start": 17823 } ], "hgvs": [ "NG_031970.2:g.17824G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673854" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 409, "referenceAllele": "G", "start": 408 } ], "gene": "http://reg.genome.network/gene/GN025443", "geneNCBI_id": 83636, "geneSymbol": "C19orf12", "hgvs": [ "ENST00000614091.5:c.172G>A" ], "proteinEffect": { "hgvs": "ENSP00000482097.2:p.Gly58Arg", "hgvsWellDefined": "ENSP00000482097.2:p.Gly58Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS826446" }, { "coordinates": [ { "allele": "A", "end": 336, "referenceAllele": "G", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN025443", "geneNCBI_id": 83636, "geneSymbol": "C19orf12", "hgvs": [ "ENST00000623113.3:c.172G>A" ], "proteinEffect": { "hgvs": "ENSP00000485413.2:p.Gly58Arg", "hgvsWellDefined": "ENSP00000485413.2:p.Gly58Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS826588" }, { "coordinates": [ { "allele": "A", "end": 319, "referenceAllele": "G", "start": 318 } ], "gene": "http://reg.genome.network/gene/GN025443", "geneNCBI_id": 83636, "geneSymbol": "C19orf12", "hgvs": [ "ENST00000323670.14:c.172G>A" ], "proteinEffect": { "hgvs": "ENSP00000313332.9:p.Gly58Arg", "hgvsWellDefined": "ENSP00000313332.9:p.Gly58Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS746576", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000323670.14:c.172G>A" }, "RefSeq": { "hgvs": "NM_031448.6:c.172G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000313332.9:p.Gly58Arg" }, "RefSeq": { "hgvs": "NP_113636.2:p.Gly58Arg" } } } }, { "coordinates": [ { "allele": "A", "end": 312, "referenceAllele": "G", "start": 311 } ], "gene": "http://reg.genome.network/gene/GN025443", "geneNCBI_id": 83636, "geneSymbol": "C19orf12", "hgvs": [ "ENST00000323670.13:c.172G>A" ], "proteinEffect": { "hgvs": "ENSP00000313332.8:p.Gly58Arg", "hgvsWellDefined": "ENSP00000313332.8:p.Gly58Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS258239" }, { "coordinates": [ { "allele": "A", "end": 454, "referenceAllele": "G", "start": 453 } ], "gene": "http://reg.genome.network/gene/GN025443", "geneNCBI_id": 83636, "geneSymbol": "C19orf12", "hgvs": [ "ENST00000342680.5:c.*86G>A" ], "proteinEffect": { "hgvs": "ENSP00000345497.5:n.*86G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS261609" }, { "coordinates": [ { "allele": "A", "end": 563, "referenceAllele": "G", "start": 562 } ], "gene": "http://reg.genome.network/gene/GN025443", "geneNCBI_id": 83636, "geneSymbol": "C19orf12", "hgvs": [ "ENST00000392275.1:n.563G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS275010" }, { "coordinates": [ { "allele": "A", "end": 109, "referenceAllele": "G", "start": 108 } ], "gene": "http://reg.genome.network/gene/GN025443", "geneNCBI_id": 83636, "geneSymbol": "C19orf12", "hgvs": [ "ENST00000392276.1:c.-21G>A" ], "proteinEffect": { "hgvs": "ENSP00000376102.1:n.-21G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS275011" }, { "coordinates": [ { "allele": "A", "end": 332, "referenceAllele": "G", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN025443", "geneNCBI_id": 83636, "geneSymbol": "C19orf12", "hgvs": [ "ENST00000392278.2:c.205G>A" ], "proteinEffect": { "hgvs": "ENSP00000376103.2:p.Gly69Arg", "hgvsWellDefined": "ENSP00000376103.2:p.Gly69Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS275012" }, { "coordinates": [ { "allele": "A", "end": 399, "referenceAllele": "G", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN025443", "geneNCBI_id": 83636, "geneSymbol": "C19orf12", "hgvs": [ "ENST00000591243.1:c.172G>A" ], "proteinEffect": { "hgvs": "ENSP00000467516.1:p.Gly58Arg", "hgvsWellDefined": "ENSP00000467516.1:p.Gly58Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS392740" }, { "coordinates": [ { "allele": "A", "end": 282, "referenceAllele": "G", "start": 281 } ], "gene": "http://reg.genome.network/gene/GN025443", "geneNCBI_id": 83636, "geneSymbol": "C19orf12", "hgvs": [ "ENST00000592153.5:c.172G>A" ], "proteinEffect": { "hgvs": "ENSP00000467117.1:p.Gly58Arg", "hgvsWellDefined": "ENSP00000467117.1:p.Gly58Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS393365" }, { "coordinates": [ { "allele": "A", "end": 409, "referenceAllele": "G", "start": 408 } ], "gene": "http://reg.genome.network/gene/GN025443", "geneNCBI_id": 83636, "geneSymbol": "C19orf12", "hgvs": [ "ENST00000614091.4:c.172G>A" ], "proteinEffect": { "hgvs": "ENSP00000482097.1:p.Gly58Arg", "hgvsWellDefined": "ENSP00000482097.1:p.Gly58Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS402026" }, { "coordinates": [ { "allele": "A", "end": 162, "referenceAllele": "G", "start": 161 } ], "gene": "http://reg.genome.network/gene/GN025443", "geneNCBI_id": 83636, "geneSymbol": "C19orf12", "hgvs": [ "ENST00000623113.1:c.-21G>A" ], "proteinEffect": { "hgvs": "ENSP00000485413.1:n.-21G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS405997" }, { "@id": "http://reg.genome.network/allele/PA092966", "coordinates": [ { "allele": "A", "end": 332, "referenceAllele": "G", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN025443", "geneNCBI_id": 83636, "geneSymbol": "C19orf12", "hgvs": [ "NM_001031726.3:c.205G>A" ], "proteinEffect": { "hgvs": "NP_001026896.2:p.Gly69Arg", "hgvsWellDefined": "NP_001026896.2:p.Gly69Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS009016" }, { "@id": "http://reg.genome.network/allele/PA2826369638", "coordinates": [ { "allele": "A", "end": 603, "referenceAllele": "G", "start": 602 } ], "gene": "http://reg.genome.network/gene/GN025443", "geneNCBI_id": 83636, "geneSymbol": "C19orf12", "hgvs": [ "NM_001256046.1:c.172G>A" ], "proteinEffect": { "hgvs": "NP_001242975.1:p.Gly58Arg", "hgvsWellDefined": "NP_001242975.1:p.Gly58Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS019071" }, { "@id": "http://reg.genome.network/allele/PA345638", "coordinates": [ { "allele": "A", "end": 409, "referenceAllele": "G", "start": 408 } ], "gene": "http://reg.genome.network/gene/GN025443", "geneNCBI_id": 83636, "geneSymbol": "C19orf12", "hgvs": [ "NM_001256047.1:c.172G>A" ], "proteinEffect": { "hgvs": "NP_001242976.1:p.Gly58Arg", "hgvsWellDefined": "NP_001242976.1:p.Gly58Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS019072" }, { "coordinates": [ { "allele": "A", "end": 162, "referenceAllele": "G", "start": 161 } ], "gene": "http://reg.genome.network/gene/GN025443", "geneNCBI_id": 83636, "geneSymbol": "C19orf12", "hgvs": [ "NM_001282929.1:c.-21G>A" ], "proteinEffect": { "hgvs": "NP_001269858.1:n.-21G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS022348" }, { "coordinates": [ { "allele": "A", "end": 433, "referenceAllele": "G", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN025443", "geneNCBI_id": 83636, "geneSymbol": "C19orf12", "hgvs": [ "NM_001282930.1:c.-21G>A" ], "proteinEffect": { "hgvs": "NP_001269859.1:n.-21G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS022349" }, { "coordinates": [ { "allele": "A", "end": 724, "referenceAllele": "G", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN025443", "geneNCBI_id": 83636, "geneSymbol": "C19orf12", "hgvs": [ "NM_001282931.1:c.-21G>A" ], "proteinEffect": { "hgvs": "NP_001269860.1:n.-21G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS022350" }, { "@id": "http://reg.genome.network/allele/PA2830059762", "coordinates": [ { "allele": "A", "end": 603, "referenceAllele": "G", "start": 602 } ], "gene": "http://reg.genome.network/gene/GN025443", "geneNCBI_id": 83636, "geneSymbol": "C19orf12", "hgvs": [ "NM_031448.4:c.172G>A" ], "proteinEffect": { "hgvs": "NP_113636.2:p.Gly58Arg", "hgvsWellDefined": "NP_113636.2:p.Gly58Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS038643" }, { "coordinates": [ { "allele": "A", "end": 1075, "referenceAllele": "G", "start": 1074 } ], "gene": "http://reg.genome.network/gene/GN025443", "geneNCBI_id": 83636, "geneSymbol": "C19orf12", "hgvs": [ "XM_024451734.1:c.334G>A" ], "proteinEffect": { "hgvs": "XP_024307502.1:p.Gly112Arg", "hgvsWellDefined": "XP_024307502.1:p.Gly112Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS585244" }, { "coordinates": [ { "allele": "A", "end": 1409, "referenceAllele": "G", "start": 1408 } ], "gene": "http://reg.genome.network/gene/GN025443", "geneNCBI_id": 83636, "geneSymbol": "C19orf12", "hgvs": [ "XM_024451735.1:c.172G>A" ], "proteinEffect": { "hgvs": "XP_024307503.1:p.Gly58Arg", "hgvsWellDefined": "XP_024307503.1:p.Gly58Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS585245" }, { "coordinates": [ { "allele": "A", "end": 1254, "referenceAllele": "G", "start": 1253 } ], "gene": "http://reg.genome.network/gene/GN025443", "geneNCBI_id": 83636, "geneSymbol": "C19orf12", "hgvs": [ "XM_024451736.1:c.172G>A" ], "proteinEffect": { "hgvs": "XP_024307504.1:p.Gly58Arg", "hgvsWellDefined": "XP_024307504.1:p.Gly58Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS585246" }, { "coordinates": [ { "allele": "A", "end": 656, "referenceAllele": "G", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN025443", "geneNCBI_id": 83636, "geneSymbol": "C19orf12", "hgvs": [ "XM_024451737.1:c.172G>A" ], "proteinEffect": { "hgvs": "XP_024307505.1:p.Gly58Arg", "hgvsWellDefined": "XP_024307505.1:p.Gly58Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS585247" }, { "coordinates": [ { "allele": "A", "end": 348, "referenceAllele": "G", "start": 347 } ], "gene": "http://reg.genome.network/gene/GN025443", "geneNCBI_id": 83636, "geneSymbol": "C19orf12", "hgvs": [ "XM_024451738.1:c.172G>A" ], "proteinEffect": { "hgvs": "XP_024307506.1:p.Gly58Arg", "hgvsWellDefined": "XP_024307506.1:p.Gly58Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS585248" }, { "@id": "http://reg.genome.network/allele/PA2826369638", "coordinates": [ { "allele": "A", "end": 319, "referenceAllele": "G", "start": 318 } ], "gene": "http://reg.genome.network/gene/GN025443", "geneNCBI_id": 83636, "geneSymbol": "C19orf12", "hgvs": [ "NM_001256046.2:c.172G>A" ], "proteinEffect": { "hgvs": "NP_001242975.1:p.Gly58Arg", "hgvsWellDefined": "NP_001242975.1:p.Gly58Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS680487" }, { "coordinates": [ { "allele": "A", "end": 149, "referenceAllele": "G", "start": 148 } ], "gene": "http://reg.genome.network/gene/GN025443", "geneNCBI_id": 83636, "geneSymbol": "C19orf12", "hgvs": [ "NM_001282930.2:c.-21G>A" ], "proteinEffect": { "hgvs": "NP_001269859.1:n.-21G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS681952" }, { "coordinates": [ { "allele": "A", "end": 440, "referenceAllele": "G", "start": 439 } ], "gene": "http://reg.genome.network/gene/GN025443", "geneNCBI_id": 83636, "geneSymbol": "C19orf12", "hgvs": [ "NM_001282931.2:c.-21G>A" ], "proteinEffect": { "hgvs": "NP_001269860.1:n.-21G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS681953" }, { "@id": "http://reg.genome.network/allele/PA2830059762", "coordinates": [ { "allele": "A", "end": 319, "referenceAllele": "G", "start": 318 } ], "gene": "http://reg.genome.network/gene/GN025443", "geneNCBI_id": 83636, "geneSymbol": "C19orf12", "hgvs": [ "NM_031448.6:c.172G>A" ], "proteinEffect": { "hgvs": "NP_113636.2:p.Gly58Arg", "hgvsWellDefined": "NP_113636.2:p.Gly58Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS698951", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000323670.14:c.172G>A" }, "RefSeq": { "hgvs": "NM_031448.6:c.172G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000313332.9:p.Gly58Arg" }, "RefSeq": { "hgvs": "NP_113636.2:p.Gly58Arg" } } } }, { "@id": "http://reg.genome.network/allele/PA2825353454", "coordinates": [ { "allele": "A", "end": 336, "referenceAllele": "G", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN025443", "geneNCBI_id": 83636, "geneSymbol": "C19orf12", "hgvs": [ "NM_001031726.4:c.172G>A" ], "proteinEffect": { "hgvs": "NP_001026896.3:p.Gly58Arg", "hgvsWellDefined": "NP_001026896.3:p.Gly58Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS711488" }, { "@id": "http://reg.genome.network/allele/PA2826369638", "coordinates": [ { "allele": "A", "end": 319, "referenceAllele": "G", "start": 318 } ], "gene": "http://reg.genome.network/gene/GN025443", "geneNCBI_id": 83636, "geneSymbol": "C19orf12", "hgvs": [ "NM_001256046.3:c.172G>A" ], "proteinEffect": { "hgvs": "NP_001242975.1:p.Gly58Arg", "hgvsWellDefined": "NP_001242975.1:p.Gly58Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS714695" }, { "@id": "http://reg.genome.network/allele/PA345638", "coordinates": [ { "allele": "A", "end": 409, "referenceAllele": "G", "start": 408 } ], "gene": "http://reg.genome.network/gene/GN025443", "geneNCBI_id": 83636, "geneSymbol": "C19orf12", "hgvs": [ "NM_001256047.2:c.172G>A" ], "proteinEffect": { "hgvs": "NP_001242976.1:p.Gly58Arg", "hgvsWellDefined": "NP_001242976.1:p.Gly58Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS714696" }, { "coordinates": [ { "allele": "A", "end": 149, "referenceAllele": "G", "start": 148 } ], "gene": "http://reg.genome.network/gene/GN025443", "geneNCBI_id": 83636, "geneSymbol": "C19orf12", "hgvs": [ "NM_001282930.3:c.-21G>A" ], "proteinEffect": { "hgvs": "NP_001269859.1:n.-21G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS715975" }, { "coordinates": [ { "allele": "A", "end": 440, "referenceAllele": "G", "start": 439 } ], "gene": "http://reg.genome.network/gene/GN025443", "geneNCBI_id": 83636, "geneSymbol": "C19orf12", "hgvs": [ "NM_001282931.3:c.-21G>A" ], "proteinEffect": { "hgvs": "NP_001269860.1:n.-21G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS715976" } ], "type": "nucleotide" }