Canonical Allele Identifier: CA317525223

Gene: DNAJC5

Linked Data

• ClinVar Variation Id: 895127
• ClinVar RCV Id: RCV001137038
• dbSNP Id: rs752208413
• gnomAD v2: 20-62564757-C-T
• gnomAD v3: 20-63933404-C-T
• gnomAD v4: 20-63933404-C-T
• MyVariant Identifiers: chr20:g.62564757C>T (hg19) ; chr20:g.63933404C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63933404C>T , CM000682.2:g.63933404C>T	GRCh38
NC_000020.10:g.62564757C>T , CM000682.1:g.62564757C>T	GRCh37
NC_000020.9:g.62035201C>T	NCBI36
NG_029805.1:g.43303C>T
NG_029805.2:g.43303C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703637.1:c.*2003C>T	ENSP00000515413.1:n.*2003C>T
ENST00000360864.9:c.*1836C>T MANE Select	ENSP00000354111.4:n.*1836C>T
ENST00000360864.8:c.*1836C>T	ENSP00000354111.4:n.*1836C>T
ENST00000470551.1:c.*2003C>T	ENSP00000434744.1:n.*2003C>T
NM_025219.2:c.*1836C>T	NP_079495.1:n.*1836C>T
XM_011529048.1:c.*1836C>T	XP_011527350.1:n.*1836C>T
XM_011529049.1:c.*1836C>T	XP_011527351.1:n.*1836C>T
XM_011529050.1:c.*1836C>T	XP_011527352.1:n.*1836C>T
XR_936629.1:n.3139C>T
XR_936630.1:n.3397C>T
XM_011529048.2:c.*1836C>T	XP_011527350.1:n.*1836C>T
XR_936629.2:n.3152C>T
NM_025219.3:c.*1836C>T MANE Select	NP_079495.1:n.*1836C>T