Canonical Allele Identifier: CA456052945
Gene: DNAJC30 HGNC NCBI
BUD23 HGNC NCBI

Linked Data

gnomAD v4: 7-73683049-G-C
MyVariant Identifiers: chr7:g.73097379G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683049G>C , CM000669.2:g.73683049G>C GRCh38
NC_000007.13:g.73097379G>C , CM000669.1:g.73097379G>C GRCh37
NC_000007.12:g.72735315G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.375C>G (DNAJC30) MANE Select ENSP00000378605.1:p.Val125=
ENST00000395176.2:c.375C>G (DNAJC30) ENSP00000378605.1:p.Val125=
ENST00000464615.1:n.25G>C (BUD23)
NM_032317.2:c.375C>G (DNAJC30) NP_115693.2:p.Val125=
NM_032317.3:c.375C>G (DNAJC30) MANE Select NP_115693.2:p.Val125=
Search 100 bp 5'
Search 100 bp 3'