Canonical Allele Identifier: CA4289977
Gene: DNAJC30 HGNC NCBI
BUD23 HGNC NCBI

Linked Data

dbSNP Id: rs782527449
gnomAD v2: 7-73097542-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683212C>T , CM000669.2:g.73683212C>T GRCh38
NC_000007.13:g.73097542C>T , CM000669.1:g.73097542C>T GRCh37
NC_000007.12:g.72735478C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.212G>A (DNAJC30) MANE Select ENSP00000378605.1:p.Arg71His
ENST00000395176.2:c.212G>A (DNAJC30) ENSP00000378605.1:p.Arg71His
ENST00000464615.1:n.188C>T (BUD23)
NM_032317.2:c.212G>A (DNAJC30) NP_115693.2:p.Arg71His
NM_032317.3:c.212G>A (DNAJC30) MANE Select NP_115693.2:p.Arg71His