Canonical Allele Identifier: CA1717166391
Gene: DNAJC30 HGNC NCBI
BUD23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683257A= , CM000669.2:g.73683257A= GRCh38
NC_000007.13:g.73097587A= , CM000669.1:g.73097587A= GRCh37
NC_000007.12:g.72735523A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.167T= (DNAJC30) MANE Select ENSP00000378605.1:p.Val56=
ENST00000395176.2:c.167T= (DNAJC30) ENSP00000378605.1:p.Val56=
ENST00000464615.1:n.233A= (BUD23)
NM_032317.2:c.167T= (DNAJC30) NP_115693.2:p.Val56=
NM_032317.3:c.167T= (DNAJC30) MANE Select NP_115693.2:p.Val56=