Canonical Allele Identifier: CA367827360

Gene: DNAJC30 BUD23

Linked Data

• ClinVar Variation Id: 1171026
• ClinVar RCV Id: RCV001523900
• dbSNP Id: rs2116654445
• MyVariant Identifiers: chr7:g.73097522G>A (hg19) ; chr7:g.73683192G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73683192G>A , CM000669.2:g.73683192G>A	GRCh38
NC_000007.13:g.73097522G>A , CM000669.1:g.73097522G>A	GRCh37
NC_000007.12:g.72735458G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395176.3:c.232C>T (DNAJC30) MANE Select	ENSP00000378605.1:p.Pro78Ser
ENST00000395176.2:c.232C>T (DNAJC30)	ENSP00000378605.1:p.Pro78Ser
ENST00000464615.1:n.168G>A (BUD23)
NM_032317.2:c.232C>T (DNAJC30)	NP_115693.2:p.Pro78Ser
NM_032317.3:c.232C>T (DNAJC30) MANE Select	NP_115693.2:p.Pro78Ser