Canonical Allele Identifier: CA10653419

Gene: DNAJC5

Linked Data

• ClinVar Variation Id: 339429
• ClinVar RCV Id: RCV000397071 ; RCV001142010
• dbSNP Id: rs577249426
• gnomAD v2: 20-62566401-G-C
• gnomAD v3: 20-63935048-G-C
• gnomAD v4: 20-63935048-G-C
• MyVariant Identifiers: chr20:g.62566401G>C (hg19) ; chr20:g.63935048G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63935048G>C , CM000682.2:g.63935048G>C	GRCh38
NC_000020.10:g.62566401G>C , CM000682.1:g.62566401G>C	GRCh37
NC_000020.9:g.62036845G>C	NCBI36
NG_029805.1:g.44947G>C
NG_029805.2:g.44947G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360864.9:c.*3480G>C MANE Select	ENSP00000354111.4:n.*3480G>C
ENST00000360864.8:c.*3480G>C	ENSP00000354111.4:n.*3480G>C
ENST00000470551.1:c.*3647G>C	ENSP00000434744.1:n.*3647G>C
NM_025219.2:c.*3480G>C	NP_079495.1:n.*3480G>C
XM_011529048.1:c.*3480G>C	XP_011527350.1:n.*3480G>C
XM_011529049.1:c.*3480G>C	XP_011527351.1:n.*3480G>C
XM_011529050.1:c.*3480G>C	XP_011527352.1:n.*3480G>C
XR_936629.1:n.4783G>C
XR_936630.1:n.5041G>C
XM_011529048.2:c.*3480G>C	XP_011527350.1:n.*3480G>C
XR_936629.2:n.4796G>C
NM_025219.3:c.*3480G>C MANE Select	NP_079495.1:n.*3480G>C