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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA367828132
Gene: DNAJC30
HGNC
NCBI
BUD23
HGNC
NCBI
Linked Data
dbSNP Id:
rs1797781070
MyVariant Identifiers:
chr7:g.73097662A>C (hg19)
chr7:g.73683332A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.73683332A>C , CM000669.2:g.73683332A>C
GRCh38
NC_000007.13:g.73097662A>C , CM000669.1:g.73097662A>C
GRCh37
NC_000007.12:g.72735598A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000395176.3:c.92T>G
(DNAJC30)
MANE Select
ENSP00000378605.1:p.Leu31Arg
ENST00000395176.2:c.92T>G
(DNAJC30)
ENSP00000378605.1:p.Leu31Arg
ENST00000464615.1:n.308A>C
(BUD23)
NM_032317.2:c.92T>G
(DNAJC30)
NP_115693.2:p.Leu31Arg
NM_032317.3:c.92T>G
(DNAJC30)
MANE Select
NP_115693.2:p.Leu31Arg
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