Canonical Allele Identifier: CA9969747

Gene: DNAJC5

Linked Data

• ClinVar Variation Id: 339357
• ClinVar RCV Id: RCV000385002 ; RCV001139076 ; RCV000921975 ; RCV002328865
• dbSNP Id: rs746222594
• ExAC: 20:62562320 G / A
• gnomAD v2: 20-62562320-G-A
• gnomAD v4: 20-63930967-G-A
• MyVariant Identifiers: chr20:g.62562320G>A (hg19) ; chr20:g.63930967G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63930967G>A , CM000682.2:g.63930967G>A	GRCh38
NC_000020.10:g.62562320G>A , CM000682.1:g.62562320G>A	GRCh37
NC_000020.9:g.62032764G>A	NCBI36
NG_029805.1:g.40866G>A
NG_029805.2:g.40866G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703637.1:c.438G>A	ENSP00000515413.1:p.Thr146=
ENST00000360864.9:c.438G>A MANE Select	ENSP00000354111.4:p.Thr146=
ENST00000360864.8:c.438G>A	ENSP00000354111.4:p.Thr146=
ENST00000470551.1:c.438G>A	ENSP00000434744.1:p.Thr146=
NM_025219.2:c.438G>A	NP_079495.1:p.Thr146=
XM_011529048.1:c.438G>A	XP_011527350.1:p.Thr146=
XM_011529049.1:c.438G>A	XP_011527351.1:p.Thr146=
XM_011529050.1:c.438G>A	XP_011527352.1:p.Thr146=
XR_936629.1:n.1070G>A
XR_936630.1:n.1328G>A
XM_011529048.2:c.438G>A	XP_011527350.1:p.Thr146=
XR_936629.2:n.1083G>A
NM_025219.3:c.438G>A MANE Select	NP_079495.1:p.Thr146=