Canonical Allele Identifier: CA409718451

Gene: DNAJC5

Linked Data

• gnomAD v4: 20-63930872-C-G
• MyVariant Identifiers: chr20:g.62562225C>G (hg19) ; chr20:g.63930872C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63930872C>G , CM000682.2:g.63930872C>G	GRCh38
NC_000020.10:g.62562225C>G , CM000682.1:g.62562225C>G	GRCh37
NC_000020.9:g.62032669C>G	NCBI36
NG_029805.1:g.40771C>G
NG_029805.2:g.40771C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703637.1:c.343C>G	ENSP00000515413.1:p.Leu115Val
ENST00000360864.9:c.343C>G MANE Select	ENSP00000354111.4:p.Leu115Val
ENST00000360864.8:c.343C>G	ENSP00000354111.4:p.Leu115Val
ENST00000470551.1:c.343C>G	ENSP00000434744.1:p.Leu115Val
NM_025219.2:c.343C>G	NP_079495.1:p.Leu115Val
XM_011529048.1:c.343C>G	XP_011527350.1:p.Leu115Val
XM_011529049.1:c.343C>G	XP_011527351.1:p.Leu115Val
XM_011529050.1:c.343C>G	XP_011527352.1:p.Leu115Val
XR_936629.1:n.975C>G
XR_936630.1:n.1233C>G
XM_011529048.2:c.343C>G	XP_011527350.1:p.Leu115Val
XR_936629.2:n.988C>G
NM_025219.3:c.343C>G MANE Select	NP_079495.1:p.Leu115Val