Canonical Allele Identifier: CA367827515

Gene: DNAJC30 BUD23

Linked Data

• dbSNP Id: rs782443219
• gnomAD v2: 7-73097557-T-C
• gnomAD v4: 7-73683227-T-C
• MyVariant Identifiers: chr7:g.73097557T>C (hg19) ; chr7:g.73683227T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73683227T>C , CM000669.2:g.73683227T>C	GRCh38
NC_000007.13:g.73097557T>C , CM000669.1:g.73097557T>C	GRCh37
NC_000007.12:g.72735493T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395176.3:c.197A>G (DNAJC30) MANE Select	ENSP00000378605.1:p.Lys66Arg
ENST00000395176.2:c.197A>G (DNAJC30)	ENSP00000378605.1:p.Lys66Arg
ENST00000464615.1:n.203T>C (BUD23)
NM_032317.2:c.197A>G (DNAJC30)	NP_115693.2:p.Lys66Arg
NM_032317.3:c.197A>G (DNAJC30) MANE Select	NP_115693.2:p.Lys66Arg