Canonical Allele Identifier: CA2683240698
Gene: DNAJC30 HGNC NCBI
BUD23 HGNC NCBI

Linked Data

gnomAD v4: 7-73683434-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683434T>C , CM000669.2:g.73683434T>C GRCh38
NC_000007.13:g.73097764T>C , CM000669.1:g.73097764T>C GRCh37
NC_000007.12:g.72735700T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.-11A>G (DNAJC30) MANE Select ENSP00000378605.1:n.-11A>G
ENST00000395176.2:c.-11A>G (DNAJC30) ENSP00000378605.1:n.-11A>G
ENST00000464615.1:n.359+51T>C (BUD23)
NM_032317.2:c.-11A>G (DNAJC30) NP_115693.2:n.-11A>G
NM_032317.3:c.-11A>G (DNAJC30) MANE Select NP_115693.2:n.-11A>G