Canonical Allele Identifier: CA367826726
Gene: DNAJC30 HGNC NCBI
BUD23 HGNC NCBI

Linked Data

gnomAD v4: 7-73683033-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683033G>T , CM000669.2:g.73683033G>T GRCh38
NC_000007.13:g.73097363G>T , CM000669.1:g.73097363G>T GRCh37
NC_000007.12:g.72735299G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.391C>A (DNAJC30) MANE Select ENSP00000378605.1:p.Pro131Thr
ENST00000395176.2:c.391C>A (DNAJC30) ENSP00000378605.1:p.Pro131Thr
ENST00000464615.1:n.9G>T (BUD23)
NM_032317.2:c.391C>A (DNAJC30) NP_115693.2:p.Pro131Thr
NM_032317.3:c.391C>A (DNAJC30) MANE Select NP_115693.2:p.Pro131Thr