Canonical Allele Identifier: CA367827432
Gene: DNAJC30 HGNC NCBI
BUD23 HGNC NCBI

Linked Data

gnomAD v4: 7-73683207-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683207A>G , CM000669.2:g.73683207A>G GRCh38
NC_000007.13:g.73097537A>G , CM000669.1:g.73097537A>G GRCh37
NC_000007.12:g.72735473A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.217T>C (DNAJC30) MANE Select ENSP00000378605.1:p.Cys73Arg
ENST00000395176.2:c.217T>C (DNAJC30) ENSP00000378605.1:p.Cys73Arg
ENST00000464615.1:n.183A>G (BUD23)
NM_032317.2:c.217T>C (DNAJC30) NP_115693.2:p.Cys73Arg
NM_032317.3:c.217T>C (DNAJC30) MANE Select NP_115693.2:p.Cys73Arg