Canonical Allele Identifier: CA367827011
Gene: DNAJC30 HGNC NCBI
BUD23 HGNC NCBI

Linked Data

dbSNP Id: rs1231756509
gnomAD v2: 7-73097435-G-A
gnomAD v3: 7-73683105-G-A
gnomAD v4: 7-73683105-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683105G>A , CM000669.2:g.73683105G>A GRCh38
NC_000007.13:g.73097435G>A , CM000669.1:g.73097435G>A GRCh37
NC_000007.12:g.72735371G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.319C>T (DNAJC30) MANE Select ENSP00000378605.1:p.Arg107Cys
ENST00000395176.2:c.319C>T (DNAJC30) ENSP00000378605.1:p.Arg107Cys
ENST00000464615.1:n.81G>A (BUD23)
NM_032317.2:c.319C>T (DNAJC30) NP_115693.2:p.Arg107Cys
NM_032317.3:c.319C>T (DNAJC30) MANE Select NP_115693.2:p.Arg107Cys