{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA254550", "communityStandardTitle": [ "NM_000514.4(GDNF):c.633C>G (p.Ile211Met)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23800[alleleid]", "alleleId": 23800, "preferredName": "NM_000514.4(GDNF):c.633C>G (p.Ile211Met)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8761", "RCV": [ "RCV000009306" ], "variationId": 8761 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/5-37815756-G-C", "id": "5-37815756-G-C", "variant": "5:37815756 G / C" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.37815756G>C?assembly=hg19", "id": "chr5:g.37815756G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.37815654G>C?assembly=hg38", "id": "chr5:g.37815654G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121918536", "rs": 121918536 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-37815756-G-C?dataset=gnomad_r2_1", "id": "5-37815756-G-C", "variant": "5:37815756 G / C" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-37815654-G-C?dataset=gnomad_r3", "id": "5-37815654-G-C", "variant": "5:37815654 G / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-37815654-G-C?dataset=gnomad_r4", "id": "5-37815654-G-C", "variant": "5:37815654 G / C" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "C", "end": 37815654, "referenceAllele": "G", "start": 37815653 } ], "hgvs": [ "NC_000005.10:g.37815654G>C", "CM000667.2:g.37815654G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "C", "end": 37815756, "referenceAllele": "G", "start": 37815755 } ], "hgvs": [ "NC_000005.9:g.37815756G>C", "CM000667.1:g.37815756G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "C", "end": 37851513, "referenceAllele": "G", "start": 37851512 } ], "hgvs": [ "NC_000005.8:g.37851513G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "G", "end": 29027, "referenceAllele": "C", "start": 29026 } ], "hgvs": [ "NG_011675.2:g.29027C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS001891" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1194, "referenceAllele": "C", "start": 1193 } ], "gene": "http://reg.genome.network/gene/GN004232", "geneNCBI_id": 2668, "geneSymbol": "GDNF", "hgvs": [ "ENST00000326524.7:c.633C>G" ], "proteinEffect": { "hgvs": "ENSP00000317145.2:p.Ile211Met", "hgvsWellDefined": "ENSP00000317145.2:p.Ile211Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS746770", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326524.7:c.633C>G" }, "RefSeq": { "hgvs": "NM_000514.4:c.633C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000317145.2:p.Ile211Met" }, "RefSeq": { "hgvs": "NP_000505.1:p.Ile211Met" } } } }, { "coordinates": [ { "allele": "G", "end": 833, "referenceAllele": "C", "start": 832 } ], "gene": "http://reg.genome.network/gene/GN004232", "geneNCBI_id": 2668, "geneSymbol": "GDNF", "hgvs": [ "ENST00000326524.6:c.633C>G" ], "proteinEffect": { "hgvs": "ENSP00000317145.2:p.Ile211Met", "hgvsWellDefined": "ENSP00000317145.2:p.Ile211Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS258629" }, { "coordinates": [ { "allele": "G", "end": 678, "referenceAllele": "C", "start": 677 } ], "gene": "http://reg.genome.network/gene/GN004232", "geneNCBI_id": 2668, "geneSymbol": "GDNF", "hgvs": [ "ENST00000344622.8:c.555C>G" ], "proteinEffect": { "hgvs": "ENSP00000339703.4:p.Ile185Met", "hgvsWellDefined": "ENSP00000339703.4:p.Ile185Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS262014" }, { "coordinates": [ { "allele": "G", "end": 775, "referenceAllele": "C", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN004232", "geneNCBI_id": 2668, "geneSymbol": "GDNF", "hgvs": [ "ENST00000381826.8:c.606C>G" ], "proteinEffect": { "hgvs": "ENSP00000371248.4:p.Ile202Met", "hgvsWellDefined": "ENSP00000371248.4:p.Ile202Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS273514" }, { "coordinates": [ { "allele": "G", "end": 853, "referenceAllele": "C", "start": 852 } ], "gene": "http://reg.genome.network/gene/GN004232", "geneNCBI_id": 2668, "geneSymbol": "GDNF", "hgvs": [ "ENST00000427982.5:c.684C>G" ], "proteinEffect": { "hgvs": "ENSP00000409007.1:p.Ile228Met", "hgvsWellDefined": "ENSP00000409007.1:p.Ile228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS289971" }, { "coordinates": [ { "allele": "G", "end": 761, "referenceAllele": "C", "start": 760 } ], "gene": "http://reg.genome.network/gene/GN004232", "geneNCBI_id": 2668, "geneSymbol": "GDNF", "hgvs": [ "ENST00000515058.5:c.555C>G" ], "proteinEffect": { "hgvs": "ENSP00000425928.1:p.Ile185Met", "hgvsWellDefined": "ENSP00000425928.1:p.Ile185Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS344395" }, { "coordinates": [ { "allele": "G", "end": 661, "referenceAllele": "C", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN004232", "geneNCBI_id": 2668, "geneSymbol": "GDNF", "hgvs": [ "ENST00000620847.1:c.477C>G" ], "proteinEffect": { "hgvs": "ENSP00000478722.1:p.Ile159Met", "hgvsWellDefined": "ENSP00000478722.1:p.Ile159Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS405007" }, { "@id": "http://reg.genome.network/allele/PA098868", "coordinates": [ { "allele": "G", "end": 833, "referenceAllele": "C", "start": 832 } ], "gene": "http://reg.genome.network/gene/GN004232", "geneNCBI_id": 2668, "geneSymbol": "GDNF", "hgvs": [ "NM_000514.3:c.633C>G" ], "proteinEffect": { "hgvs": "NP_000505.1:p.Ile211Met", "hgvsWellDefined": "NP_000505.1:p.Ile211Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS006570" }, { "@id": "http://reg.genome.network/allele/PA915997010", "coordinates": [ { "allele": "G", "end": 853, "referenceAllele": "C", "start": 852 } ], "gene": "http://reg.genome.network/gene/GN004232", "geneNCBI_id": 2668, "geneSymbol": "GDNF", "hgvs": [ "NM_001190468.1:c.684C>G" ], "proteinEffect": { "hgvs": "NP_001177397.1:p.Ile228Met", "hgvsWellDefined": "NP_001177397.1:p.Ile228Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS016190" }, { "@id": "http://reg.genome.network/allele/PA2826160879", "coordinates": [ { "allele": "G", "end": 775, "referenceAllele": "C", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN004232", "geneNCBI_id": 2668, "geneSymbol": "GDNF", "hgvs": [ "NM_001190469.1:c.606C>G" ], "proteinEffect": { "hgvs": "NP_001177398.1:p.Ile202Met", "hgvsWellDefined": "NP_001177398.1:p.Ile202Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS016191" }, { "@id": "http://reg.genome.network/allele/PA2826580273", "coordinates": [ { "allele": "G", "end": 661, "referenceAllele": "C", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN004232", "geneNCBI_id": 2668, "geneSymbol": "GDNF", "hgvs": [ "NM_001278098.1:c.477C>G" ], "proteinEffect": { "hgvs": "NP_001265027.1:p.Ile159Met", "hgvsWellDefined": "NP_001265027.1:p.Ile159Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS021063" }, { "@id": "http://reg.genome.network/allele/PA2830430744", "coordinates": [ { "allele": "G", "end": 678, "referenceAllele": "C", "start": 677 } ], "gene": "http://reg.genome.network/gene/GN004232", "geneNCBI_id": 2668, "geneSymbol": "GDNF", "hgvs": [ "NM_199231.2:c.555C>G" ], "proteinEffect": { "hgvs": "NP_954701.1:p.Ile185Met", "hgvsWellDefined": "NP_954701.1:p.Ile185Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS044879" }, { "coordinates": [ { "allele": "G", "end": 746, "referenceAllele": "C", "start": 745 } ], "gene": "http://reg.genome.network/gene/GN004232", "geneNCBI_id": 2668, "geneSymbol": "GDNF", "hgvs": [ "XM_011514028.1:c.633C>G" ], "proteinEffect": { "hgvs": "XP_011512330.1:p.Ile211Met", "hgvsWellDefined": "XP_011512330.1:p.Ile211Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS081254" }, { "coordinates": [ { "allele": "G", "end": 704, "referenceAllele": "C", "start": 703 } ], "gene": "http://reg.genome.network/gene/GN004232", "geneNCBI_id": 2668, "geneSymbol": "GDNF", "hgvs": [ "XM_011514029.1:c.633C>G" ], "proteinEffect": { "hgvs": "XP_011512331.1:p.Ile211Met", "hgvsWellDefined": "XP_011512331.1:p.Ile211Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS081255" }, { "coordinates": [ { "allele": "G", "end": 541, "referenceAllele": "C", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN004232", "geneNCBI_id": 2668, "geneSymbol": "GDNF", "hgvs": [ "XM_011514030.1:c.477C>G" ], "proteinEffect": { "hgvs": "XP_011512332.1:p.Ile159Met", "hgvsWellDefined": "XP_011512332.1:p.Ile159Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS081256" }, { "coordinates": [ { "allele": "G", "end": 546, "referenceAllele": "C", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN004232", "geneNCBI_id": 2668, "geneSymbol": "GDNF", "hgvs": [ "XM_011514030.3:c.477C>G" ], "proteinEffect": { "hgvs": "XP_011512332.1:p.Ile159Met", "hgvsWellDefined": "XP_011512332.1:p.Ile159Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS543145" }, { "coordinates": [ { "allele": "G", "end": 1119, "referenceAllele": "C", "start": 1118 } ], "gene": "http://reg.genome.network/gene/GN004232", "geneNCBI_id": 2668, "geneSymbol": "GDNF", "hgvs": [ "XM_017009337.2:c.555C>G" ], "proteinEffect": { "hgvs": "XP_016864826.1:p.Ile185Met", "hgvsWellDefined": "XP_016864826.1:p.Ile185Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS563680" }, { "@id": "http://reg.genome.network/allele/PA098868", "coordinates": [ { "allele": "G", "end": 1194, "referenceAllele": "C", "start": 1193 } ], "gene": "http://reg.genome.network/gene/GN004232", "geneNCBI_id": 2668, "geneSymbol": "GDNF", "hgvs": [ "NM_000514.4:c.633C>G" ], "proteinEffect": { "hgvs": "NP_000505.1:p.Ile211Met", "hgvsWellDefined": "NP_000505.1:p.Ile211Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS662467", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326524.7:c.633C>G" }, "RefSeq": { "hgvs": "NM_000514.4:c.633C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000317145.2:p.Ile211Met" }, "RefSeq": { "hgvs": "NP_000505.1:p.Ile211Met" } } } } ], "type": "nucleotide" }