Canonical Allele Identifier: CA408592199

Gene: DNMT3B

Linked Data

• gnomAD v4: 20-32805387-G-A
• MyVariant Identifiers: chr20:g.31393193G>A (hg19) ; chr20:g.32805387G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32805387G>A , CM000682.2:g.32805387G>A	GRCh38
NC_000020.10:g.31393193G>A , CM000682.1:g.31393193G>A	GRCh37
NC_000020.9:g.30856854G>A	NCBI36
NG_007290.1:g.48003G>A , LRG_56:g.48003G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696231.1:c.*1232G>A	ENSP00000512497.1:n.*1232G>A
ENST00000696232.1:c.2232-2375G>A	ENSP00000512498.1:n.2232-2375G>A
ENST00000696233.1:c.*975-2375G>A	ENSP00000512499.1:n.*975-2375G>A
ENST00000696238.1:c.*1024G>A	ENSP00000512502.1:n.*1024G>A
ENST00000696239.1:c.2062G>A	ENSP00000512503.1:p.Glu688Lys
ENST00000696245.1:n.327-822G>A
ENST00000201963.3:c.2257G>A	ENSP00000201963.3:p.Glu753Lys
ENST00000328111.6:c.2281G>A MANE Select	ENSP00000328547.2:p.Glu761Lys
ENST00000348286.6:c.2172-2375G>A	ENSP00000337764.2:n.2172-2375G>A
ENST00000353855.6:c.2221G>A	ENSP00000313397.4:p.Glu741Lys
ENST00000443239.7:c.2046-2375G>A	ENSP00000403169.2:n.2046-2375G>A
ENST00000456297.6:c.1944-2375G>A	ENSP00000412305.1:n.1944-2375G>A
NM_001207055.1:c.2046-2375G>A	NP_001193984.1:n.2046-2375G>A
NM_001207056.1:c.1944-2375G>A	NP_001193985.1:n.1944-2375G>A
NM_006892.3:c.2281G>A , LRG_56t1:c.2281G>A	NP_008823.1:p.Glu761Lys
NM_175848.1:c.2221G>A	NP_787044.1:p.Glu741Lys
NM_175849.1:c.2172-2375G>A	NP_787045.1:n.2172-2375G>A
NM_175850.2:c.2257G>A	NP_787046.1:p.Glu753Lys
XM_011528653.1:c.2208-2375G>A	XP_011526955.1:n.2208-2375G>A
XM_011528654.1:c.2082-2375G>A	XP_011526956.1:n.2082-2375G>A
XR_936510.1:n.2248G>A
XR_936511.1:n.2199-2375G>A
XR_936512.1:n.2123G>A
XM_011528653.2:c.2208-2375G>A	XP_011526955.1:n.2208-2375G>A
XM_011528654.2:c.2082-2375G>A	XP_011526956.1:n.2082-2375G>A
XR_936510.2:n.2259G>A
XR_936511.2:n.2210-2375G>A
XR_936512.2:n.2135G>A
NM_001207055.2:c.2046-2375G>A	NP_001193984.1:n.2046-2375G>A
NM_001207056.2:c.1944-2375G>A	NP_001193985.1:n.1944-2375G>A
NM_006892.4:c.2281G>A MANE Select	NP_008823.1:p.Glu761Lys
NM_175848.2:c.2221G>A	NP_787044.1:p.Glu741Lys
NM_175849.2:c.2172-2375G>A	NP_787045.1:n.2172-2375G>A
NM_175850.3:c.2257G>A	NP_787046.1:p.Glu753Lys