Canonical Allele Identifier: CA511376937

Gene: DNAJC5

Linked Data

• dbSNP Id: rs1230523494
• gnomAD v4: 20-63930877-C-T
• MyVariant Identifiers: chr20:g.62562230C>T (hg19) ; chr20:g.63930877C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63930877C>T , CM000682.2:g.63930877C>T	GRCh38
NC_000020.10:g.62562230C>T , CM000682.1:g.62562230C>T	GRCh37
NC_000020.9:g.62032674C>T	NCBI36
NG_029805.1:g.40776C>T
NG_029805.2:g.40776C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703637.1:c.348C>T	ENSP00000515413.1:p.Leu116=
ENST00000360864.9:c.348C>T MANE Select	ENSP00000354111.4:p.Leu116=
ENST00000360864.8:c.348C>T	ENSP00000354111.4:p.Leu116=
ENST00000470551.1:c.348C>T	ENSP00000434744.1:p.Leu116=
NM_025219.2:c.348C>T	NP_079495.1:p.Leu116=
XM_011529048.1:c.348C>T	XP_011527350.1:p.Leu116=
XM_011529049.1:c.348C>T	XP_011527351.1:p.Leu116=
XM_011529050.1:c.348C>T	XP_011527352.1:p.Leu116=
XR_936629.1:n.980C>T
XR_936630.1:n.1238C>T
XM_011529048.2:c.348C>T	XP_011527350.1:p.Leu116=
XR_936629.2:n.993C>T
NM_025219.3:c.348C>T MANE Select	NP_079495.1:p.Leu116=