Canonical Allele Identifier: CA367827372
Gene: DNAJC30 HGNC NCBI
BUD23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683194T>C , CM000669.2:g.73683194T>C GRCh38
NC_000007.13:g.73097524T>C , CM000669.1:g.73097524T>C GRCh37
NC_000007.12:g.72735460T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.230A>G (DNAJC30) MANE Select ENSP00000378605.1:p.His77Arg
ENST00000395176.2:c.230A>G (DNAJC30) ENSP00000378605.1:p.His77Arg
ENST00000464615.1:n.170T>C (BUD23)
NM_032317.2:c.230A>G (DNAJC30) NP_115693.2:p.His77Arg
NM_032317.3:c.230A>G (DNAJC30) MANE Select NP_115693.2:p.His77Arg