Canonical Allele Identifier: CA259934

Gene: DNAJC5

Linked Data

• ClinVar Variation Id: 30894
• ClinVar RCV Id: RCV000023879 ; RCV002466414
• dbSNP Id: rs387907043
• MyVariant Identifiers: chr20:g.62562226T>G (hg19) ; chr20:g.63930873T>G (hg38)
• PubMed: PMID:11489285 ; PMID:12112194 ; PMID:21820099 ; PMID:22073189 ; PMID:22235333 ; PMID:22978711

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63930873T>G , CM000682.2:g.63930873T>G	GRCh38
NC_000020.10:g.62562226T>G , CM000682.1:g.62562226T>G	GRCh37
NC_000020.9:g.62032670T>G	NCBI36
NG_029805.1:g.40772T>G
NG_029805.2:g.40772T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703637.1:c.344T>G	ENSP00000515413.1:p.Leu115Arg
ENST00000360864.9:c.344T>G MANE Select	ENSP00000354111.4:p.Leu115Arg
ENST00000360864.8:c.344T>G	ENSP00000354111.4:p.Leu115Arg
ENST00000470551.1:c.344T>G	ENSP00000434744.1:p.Leu115Arg
NM_025219.2:c.344T>G	NP_079495.1:p.Leu115Arg
XM_011529048.1:c.344T>G	XP_011527350.1:p.Leu115Arg
XM_011529049.1:c.344T>G	XP_011527351.1:p.Leu115Arg
XM_011529050.1:c.344T>G	XP_011527352.1:p.Leu115Arg
XR_936629.1:n.976T>G
XR_936630.1:n.1234T>G
XM_011529048.2:c.344T>G	XP_011527350.1:p.Leu115Arg
XR_936629.2:n.989T>G
NM_025219.3:c.344T>G MANE Select	NP_079495.1:p.Leu115Arg