Canonical Allele Identifier: CA10623549

Gene: DNAJB6

Linked Data

• ClinVar Variation Id: 359456
• ClinVar RCV Id: RCV000268871 ; RCV000363412
• dbSNP Id: rs886062129
• gnomAD v2: 7-157202520-G-A
• gnomAD v3: 7-157409826-G-A
• gnomAD v4: 7-157409826-G-A
• MyVariant Identifiers: chr7:g.157202520G>A (hg19) ; chr7:g.157409826G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.157409826G>A , CM000669.2:g.157409826G>A	GRCh38
NC_000007.13:g.157202520G>A , CM000669.1:g.157202520G>A	GRCh37
NC_000007.12:g.156895281G>A	NCBI36
NG_032573.1:g.77811G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262177.9:c.723G>A MANE Select	ENSP00000262177.4:p.Glu241=
ENST00000262177.8:c.723G>A	ENSP00000262177.4:p.Glu241=
ENST00000443280.5:c.378G>A	ENSP00000396267.1:p.Glu126=
ENST00000459889.5:c.723G>A	ENSP00000488263.1:p.Glu241=
ENST00000465908.5:n.519G>A
ENST00000634080.1:c.723G>A	ENSP00000488740.1:p.Glu241=
NM_058246.3:c.723G>A	NP_490647.1:p.Glu241=
XM_005249515.2:c.723G>A	XP_005249572.1:p.Glu241=
XM_005249516.2:c.723G>A	XP_005249573.1:p.Glu241=
XM_006715823.1:c.692-6190G>A	XP_006715886.1:n.692-6190G>A
XM_011515704.1:c.723G>A	XP_011514006.1:p.Glu241=
NM_001363676.1:c.378G>A	NP_001350605.1:p.Glu126=
XM_005249515.3:c.723G>A	XP_005249572.1:p.Glu241=
XM_006715823.2:c.692-6190G>A	XP_006715886.1:n.692-6190G>A
NM_058246.4:c.723G>A MANE Select	NP_490647.1:p.Glu241=