Canonical Allele Identifier: CA317525131

Gene: DNAJC5

Linked Data

• dbSNP Id: rs1010309248
• gnomAD v2: 20-62564614-T-C
• gnomAD v3: 20-63933261-T-C
• gnomAD v4: 20-63933261-T-C
• MyVariant Identifiers: chr20:g.62564614T>C (hg19) ; chr20:g.63933261T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63933261T>C , CM000682.2:g.63933261T>C	GRCh38
NC_000020.10:g.62564614T>C , CM000682.1:g.62564614T>C	GRCh37
NC_000020.9:g.62035058T>C	NCBI36
NG_029805.1:g.43160T>C
NG_029805.2:g.43160T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703637.1:c.*1860T>C	ENSP00000515413.1:n.*1860T>C
ENST00000360864.9:c.*1693T>C MANE Select	ENSP00000354111.4:n.*1693T>C
ENST00000360864.8:c.*1693T>C	ENSP00000354111.4:n.*1693T>C
ENST00000470551.1:c.*1860T>C	ENSP00000434744.1:n.*1860T>C
NM_025219.2:c.*1693T>C	NP_079495.1:n.*1693T>C
XM_011529048.1:c.*1693T>C	XP_011527350.1:n.*1693T>C
XM_011529049.1:c.*1693T>C	XP_011527351.1:n.*1693T>C
XM_011529050.1:c.*1693T>C	XP_011527352.1:n.*1693T>C
XR_936629.1:n.2996T>C
XR_936630.1:n.3254T>C
XM_011529048.2:c.*1693T>C	XP_011527350.1:n.*1693T>C
XR_936629.2:n.3009T>C
NM_025219.3:c.*1693T>C MANE Select	NP_079495.1:n.*1693T>C