Canonical Allele Identifier: CA4590639

Gene: DNAJB6

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.157409828G>A , CM000669.2:g.157409828G>A	GRCh38
NC_000007.13:g.157202522G>A , CM000669.1:g.157202522G>A	GRCh37
NC_000007.12:g.156895283G>A	NCBI36
NG_032573.1:g.77813G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_058246.4:c.725G>A MANE Select	NP_490647.1:p.Arg242His
ENST00000262177.9:c.725G>A MANE Select	ENSP00000262177.4:p.Arg242His
NM_001363676.1:c.380G>A	NP_001350605.1:p.Arg127His
NM_058246.3:c.725G>A	NP_490647.1:p.Arg242His
ENST00000262177.8:c.725G>A	ENSP00000262177.4:p.Arg242His
ENST00000443280.5:c.380G>A	ENSP00000396267.1:p.Arg127His
ENST00000459889.5:c.725G>A	ENSP00000488263.1:p.Arg242His
ENST00000465908.5:n.521G>A
ENST00000634080.1:c.725G>A	ENSP00000488740.1:p.Arg242His
XM_005249515.2:c.725G>A	XP_005249572.1:p.Arg242His
XM_005249515.3:c.725G>A	XP_005249572.1:p.Arg242His
XM_005249516.2:c.725G>A	XP_005249573.1:p.Arg242His
XM_006715823.1:c.692-6188G>A	XP_006715886.1:n.692-6188G>A
XM_006715823.2:c.692-6188G>A	XP_006715886.1:n.692-6188G>A
XM_011515704.1:c.725G>A	XP_011514006.1:p.Arg242His