Canonical Allele Identifier: CA4289967
Gene: DNAJC30 HGNC NCBI
BUD23 HGNC NCBI

Linked Data

dbSNP Id: rs782169135
gnomAD v2: 7-73097507-C-G
gnomAD v4: 7-73683177-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683177C>G , CM000669.2:g.73683177C>G GRCh38
NC_000007.13:g.73097507C>G , CM000669.1:g.73097507C>G GRCh37
NC_000007.12:g.72735443C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.247G>C (DNAJC30) MANE Select ENSP00000378605.1:p.Gly83Arg
ENST00000395176.2:c.247G>C (DNAJC30) ENSP00000378605.1:p.Gly83Arg
ENST00000464615.1:n.153C>G (BUD23)
NM_032317.2:c.247G>C (DNAJC30) NP_115693.2:p.Gly83Arg
NM_032317.3:c.247G>C (DNAJC30) MANE Select NP_115693.2:p.Gly83Arg