Canonical Allele Identifier: CA409718460

Gene: DNAJC5

Linked Data

• dbSNP Id: rs387907043
• gnomAD v2: 20-62562226-T-A
• gnomAD v4: 20-63930873-T-A
• MyVariant Identifiers: chr20:g.62562226T>A (hg19) ; chr20:g.63930873T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63930873T>A , CM000682.2:g.63930873T>A	GRCh38
NC_000020.10:g.62562226T>A , CM000682.1:g.62562226T>A	GRCh37
NC_000020.9:g.62032670T>A	NCBI36
NG_029805.1:g.40772T>A
NG_029805.2:g.40772T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000703637.1:c.344T>A	ENSP00000515413.1:p.Leu115His
ENST00000360864.9:c.344T>A MANE Select	ENSP00000354111.4:p.Leu115His
ENST00000360864.8:c.344T>A	ENSP00000354111.4:p.Leu115His
ENST00000470551.1:c.344T>A	ENSP00000434744.1:p.Leu115His
NM_025219.2:c.344T>A	NP_079495.1:p.Leu115His
XM_011529048.1:c.344T>A	XP_011527350.1:p.Leu115His
XM_011529049.1:c.344T>A	XP_011527351.1:p.Leu115His
XM_011529050.1:c.344T>A	XP_011527352.1:p.Leu115His
XR_936629.1:n.976T>A
XR_936630.1:n.1234T>A
XM_011529048.2:c.344T>A	XP_011527350.1:p.Leu115His
XR_936629.2:n.989T>A
NM_025219.3:c.344T>A MANE Select	NP_079495.1:p.Leu115His