Canonical Allele Identifier: CA367827091

Gene: DNAJC30 BUD23

Linked Data

• dbSNP Id: rs1554611702
• gnomAD v2: 7-73097456-C-T
• gnomAD v4: 7-73683126-C-T
• MyVariant Identifiers: chr7:g.73097456C>T (hg19) ; chr7:g.73683126C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73683126C>T , CM000669.2:g.73683126C>T	GRCh38
NC_000007.13:g.73097456C>T , CM000669.1:g.73097456C>T	GRCh37
NC_000007.12:g.72735392C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395176.3:c.298G>A (DNAJC30) MANE Select	ENSP00000378605.1:p.Val100Met
ENST00000395176.2:c.298G>A (DNAJC30)	ENSP00000378605.1:p.Val100Met
ENST00000464615.1:n.102C>T (BUD23)
NM_032317.2:c.298G>A (DNAJC30)	NP_115693.2:p.Val100Met
NM_032317.3:c.298G>A (DNAJC30) MANE Select	NP_115693.2:p.Val100Met