Canonical Allele Identifier: CA367826717
Gene: DNAJC30 HGNC NCBI
BUD23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683030C>G , CM000669.2:g.73683030C>G GRCh38
NC_000007.13:g.73097360C>G , CM000669.1:g.73097360C>G GRCh37
NC_000007.12:g.72735296C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.394G>C (DNAJC30) MANE Select ENSP00000378605.1:p.Ala132Pro
ENST00000395176.2:c.394G>C (DNAJC30) ENSP00000378605.1:p.Ala132Pro
ENST00000464615.1:n.6C>G (BUD23)
NM_032317.2:c.394G>C (DNAJC30) NP_115693.2:p.Ala132Pro
NM_032317.3:c.394G>C (DNAJC30) MANE Select NP_115693.2:p.Ala132Pro