Canonical Allele Identifier: CA4289963
Gene: DNAJC30 HGNC NCBI
BUD23 HGNC NCBI

Linked Data

dbSNP Id: rs369200828
gnomAD v2: 7-73097489-C-G
gnomAD v4: 7-73683159-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683159C>G , CM000669.2:g.73683159C>G GRCh38
NC_000007.13:g.73097489C>G , CM000669.1:g.73097489C>G GRCh37
NC_000007.12:g.72735425C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.265G>C (DNAJC30) MANE Select ENSP00000378605.1:p.Glu89Gln
ENST00000395176.2:c.265G>C (DNAJC30) ENSP00000378605.1:p.Glu89Gln
ENST00000464615.1:n.135C>G (BUD23)
NM_032317.2:c.265G>C (DNAJC30) NP_115693.2:p.Glu89Gln
NM_032317.3:c.265G>C (DNAJC30) MANE Select NP_115693.2:p.Glu89Gln