Canonical Allele Identifier: CA4290006
Gene: DNAJC30 HGNC NCBI
BUD23 HGNC NCBI
COSMIC:
COSM3762820 (not active)
MyVariant.info:
GRCh38 chr7:g.73683324C>T
GRCh37 chr7:g.73097654C>T
Revel Score:
ENST00000395176 (MANE Select) 0.059
ENST00000539255 0.059
gnomAD v2:
7:73097654 C / T
gnomAD v3:
7:73683324 C / T
gnomAD v4:
chr7-73683324-C-T
Joint Max Group AF 0.50401129 (MID)
Genomes Max Group AF 0.44383319 (NFE)
Exomes Max Group AF 0.50527774 (MID)
ClinVar RCV:
RCV001665267
ClinVar Variation:
1254123
dbSNP:
1128349
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683324C>T , CM000669.2:g.73683324C>T GRCh38
NC_000007.13:g.73097654C>T , CM000669.1:g.73097654C>T GRCh37
NC_000007.12:g.72735590C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.100G>A (DNAJC30) MANE Select ENSP00000378605.1:p.Gly34Arg
ENST00000395176.2:c.100G>A (DNAJC30) ENSP00000378605.1:p.Gly34Arg
ENST00000464615.1:n.300C>T (BUD23)
NM_032317.2:c.100G>A (DNAJC30) NP_115693.2:p.Gly34Arg
NM_032317.3:c.100G>A (DNAJC30) MANE Select NP_115693.2:p.Gly34Arg
Search 100 bp 5'
Search 100 bp 3'