Canonical Allele Identifier: CA4290006

Gene: DNAJC30 BUD23

Linked Data

• ClinVar Variation Id: 1254123
• ClinVar RCV Id: RCV001665267
• dbSNP Id: rs1128349
• ExAC: 7:73097654 C / T
• gnomAD v2: 7-73097654-C-T
• gnomAD v3: 7-73683324-C-T
• gnomAD v4: 7-73683324-C-T
• MyVariant Identifiers: chr7:g.73097654C>T (hg19) ; chr7:g.73683324C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73683324C>T , CM000669.2:g.73683324C>T	GRCh38
NC_000007.13:g.73097654C>T , CM000669.1:g.73097654C>T	GRCh37
NC_000007.12:g.72735590C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000395176.3:c.100G>A (DNAJC30) MANE Select	ENSP00000378605.1:p.Gly34Arg
ENST00000395176.2:c.100G>A (DNAJC30)	ENSP00000378605.1:p.Gly34Arg
ENST00000464615.1:n.300C>T (BUD23)
NM_032317.2:c.100G>A (DNAJC30)	NP_115693.2:p.Gly34Arg
NM_032317.3:c.100G>A (DNAJC30) MANE Select	NP_115693.2:p.Gly34Arg