Canonical Allele Identifier: CA367828456
Gene: DNAJC30 HGNC NCBI
BUD23 HGNC NCBI

Linked Data

dbSNP Id: rs61751896
gnomAD v4: 7-73683383-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683383G>C , CM000669.2:g.73683383G>C GRCh38
NC_000007.13:g.73097713G>C , CM000669.1:g.73097713G>C GRCh37
NC_000007.12:g.72735649G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.41C>G (DNAJC30) MANE Select ENSP00000378605.1:p.Pro14Arg
ENST00000395176.2:c.41C>G (DNAJC30) ENSP00000378605.1:p.Pro14Arg
ENST00000464615.1:n.359G>C (BUD23)
NM_032317.2:c.41C>G (DNAJC30) NP_115693.2:p.Pro14Arg
NM_032317.3:c.41C>G (DNAJC30) MANE Select NP_115693.2:p.Pro14Arg