Canonical Allele Identifier: CA511376938

Gene: DNAJC5

Linked Data

• dbSNP Id: rs775067598
• gnomAD v4: 20-63930880-G-C
• MyVariant Identifiers: chr20:g.62562233G>C (hg19) ; chr20:g.63930880G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63930880G>C , CM000682.2:g.63930880G>C	GRCh38
NC_000020.10:g.62562233G>C , CM000682.1:g.62562233G>C	GRCh37
NC_000020.9:g.62032677G>C	NCBI36
NG_029805.1:g.40779G>C
NG_029805.2:g.40779G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703637.1:c.351G>C	ENSP00000515413.1:p.Thr117=
ENST00000360864.9:c.351G>C MANE Select	ENSP00000354111.4:p.Thr117=
ENST00000360864.8:c.351G>C	ENSP00000354111.4:p.Thr117=
ENST00000470551.1:c.351G>C	ENSP00000434744.1:p.Thr117=
NM_025219.2:c.351G>C	NP_079495.1:p.Thr117=
XM_011529048.1:c.351G>C	XP_011527350.1:p.Thr117=
XM_011529049.1:c.351G>C	XP_011527351.1:p.Thr117=
XM_011529050.1:c.351G>C	XP_011527352.1:p.Thr117=
XR_936629.1:n.983G>C
XR_936630.1:n.1241G>C
XM_011529048.2:c.351G>C	XP_011527350.1:p.Thr117=
XR_936629.2:n.996G>C
NM_025219.3:c.351G>C MANE Select	NP_079495.1:p.Thr117=