Canonical Allele Identifier: CA367827353
Gene: DNAJC30 HGNC NCBI
BUD23 HGNC NCBI

Linked Data

gnomAD v4: 7-73683189-C-G
MyVariant Identifiers: chr7:g.73097519C>G (hg19) chr7:g.73683189C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683189C>G , CM000669.2:g.73683189C>G GRCh38
NC_000007.13:g.73097519C>G , CM000669.1:g.73097519C>G GRCh37
NC_000007.12:g.72735455C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.235G>C (DNAJC30) MANE Select ENSP00000378605.1:p.Asp79His
ENST00000395176.2:c.235G>C (DNAJC30) ENSP00000378605.1:p.Asp79His
ENST00000464615.1:n.165C>G (BUD23)
NM_032317.2:c.235G>C (DNAJC30) NP_115693.2:p.Asp79His
NM_032317.3:c.235G>C (DNAJC30) MANE Select NP_115693.2:p.Asp79His
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