Canonical Allele Identifier: CA160072625
Gene: DNAJC30 HGNC NCBI
BUD23 HGNC NCBI

Linked Data

dbSNP Id: rs782714870
gnomAD v2: 7-73097502-G-C
gnomAD v4: 7-73683172-G-C
MyVariant Identifiers: chr7:g.73097502G>C (hg19) chr7:g.73683172G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683172G>C , CM000669.2:g.73683172G>C GRCh38
NC_000007.13:g.73097502G>C , CM000669.1:g.73097502G>C GRCh37
NC_000007.12:g.72735438G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.252C>G (DNAJC30) MANE Select ENSP00000378605.1:p.Ser84Arg
ENST00000395176.2:c.252C>G (DNAJC30) ENSP00000378605.1:p.Ser84Arg
ENST00000464615.1:n.148G>C (BUD23)
NM_032317.2:c.252C>G (DNAJC30) NP_115693.2:p.Ser84Arg
NM_032317.3:c.252C>G (DNAJC30) MANE Select NP_115693.2:p.Ser84Arg
Search 100 bp 5'
Search 100 bp 3'