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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:
CA4290011
Gene: DNAJC30
HGNC
NCBI
BUD23
HGNC
NCBI
Linked Data
dbSNP Id:
rs782359992
ExAC:
7:73097667 G / A
gnomAD v2:
7-73097667-G-A
gnomAD v4:
7-73683337-G-A
MyVariant Identifiers:
chr7:g.73097667G>A (hg19)
chr7:g.73683337G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.73683337G>A , CM000669.2:g.73683337G>A
GRCh38
NC_000007.13:g.73097667G>A , CM000669.1:g.73097667G>A
GRCh37
NC_000007.12:g.72735603G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000395176.3:c.87C>T
(DNAJC30)
MANE Select
ENSP00000378605.1:p.Pro29=
ENST00000395176.2:c.87C>T
(DNAJC30)
ENSP00000378605.1:p.Pro29=
ENST00000464615.1:n.313G>A
(BUD23)
NM_032317.2:c.87C>T
(DNAJC30)
NP_115693.2:p.Pro29=
NM_032317.3:c.87C>T
(DNAJC30)
MANE Select
NP_115693.2:p.Pro29=
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