Canonical Allele Identifier: CA367828531

Gene: DNAJC30 BUD23

Linked Data

• dbSNP Id: rs782467804
• gnomAD v2: 7-73097725-T-G
• gnomAD v4: 7-73683395-T-G
• MyVariant Identifiers: chr7:g.73097725T>G (hg19) ; chr7:g.73683395T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73683395T>G , CM000669.2:g.73683395T>G	GRCh38
NC_000007.13:g.73097725T>G , CM000669.1:g.73097725T>G	GRCh37
NC_000007.12:g.72735661T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395176.3:c.29A>C (DNAJC30) MANE Select	ENSP00000378605.1:p.Gln10Pro
ENST00000395176.2:c.29A>C (DNAJC30)	ENSP00000378605.1:p.Gln10Pro
ENST00000464615.1:n.359+12T>G (BUD23)
NM_032317.2:c.29A>C (DNAJC30)	NP_115693.2:p.Gln10Pro
NM_032317.3:c.29A>C (DNAJC30) MANE Select	NP_115693.2:p.Gln10Pro