Canonical Allele Identifier: CA9810234

Gene: DNMT3B

Linked Data

• ClinVar Variation Id: 2513176
• ClinVar RCV Id: RCV003251834
• dbSNP Id: rs375097618
• ExAC: 20:31375108 G / A
• gnomAD v2: 20-31375108-G-A
• gnomAD v3: 20-32787302-G-A
• gnomAD v4: 20-32787302-G-A
• MyVariant Identifiers: chr20:g.31375108G>A (hg19) ; chr20:g.32787302G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32787302G>A , CM000682.2:g.32787302G>A	GRCh38
NC_000020.10:g.31375108G>A , CM000682.1:g.31375108G>A	GRCh37
NC_000020.9:g.30838769G>A	NCBI36
NG_007290.1:g.29918G>A , LRG_56:g.29918G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696231.1:c.505G>A	ENSP00000512497.1:p.Asp169Asn
ENST00000696232.1:c.505G>A	ENSP00000512498.1:p.Asp169Asn
ENST00000696233.1:c.505G>A	ENSP00000512499.1:p.Asp169Asn
ENST00000696234.1:n.489G>A
ENST00000696235.1:c.379G>A	ENSP00000512500.1:p.Asp127Asn
ENST00000696236.1:c.379G>A	ENSP00000512501.1:p.Asp127Asn
ENST00000696237.1:n.611G>A
ENST00000696238.1:c.505G>A	ENSP00000512502.1:p.Asp169Asn
ENST00000696239.1:c.505G>A	ENSP00000512503.1:p.Asp169Asn
ENST00000201963.3:c.541G>A	ENSP00000201963.3:p.Asp181Asn
ENST00000328111.6:c.505G>A MANE Select	ENSP00000328547.2:p.Asp169Asn
ENST00000348286.6:c.505G>A	ENSP00000337764.2:p.Asp169Asn
ENST00000353855.6:c.505G>A	ENSP00000313397.4:p.Asp169Asn
ENST00000443239.7:c.379G>A	ENSP00000403169.2:p.Asp127Asn
ENST00000456297.6:c.277G>A	ENSP00000412305.1:p.Asp93Asn
NM_001207055.1:c.379G>A	NP_001193984.1:p.Asp127Asn
NM_001207056.1:c.277G>A	NP_001193985.1:p.Asp93Asn
NM_006892.3:c.505G>A , LRG_56t1:c.505G>A	NP_008823.1:p.Asp169Asn
NM_175848.1:c.505G>A	NP_787044.1:p.Asp169Asn
NM_175849.1:c.505G>A	NP_787045.1:p.Asp169Asn
NM_175850.2:c.541G>A	NP_787046.1:p.Asp181Asn
XM_011528653.1:c.541G>A	XP_011526955.1:p.Asp181Asn
XM_011528654.1:c.415G>A	XP_011526956.1:p.Asp139Asn
XR_936510.1:n.677G>A
XR_936511.1:n.677G>A
XR_936512.1:n.552G>A
XM_011528653.2:c.541G>A	XP_011526955.1:p.Asp181Asn
XM_011528654.2:c.415G>A	XP_011526956.1:p.Asp139Asn
XR_936510.2:n.688G>A
XR_936511.2:n.688G>A
XR_936512.2:n.564G>A
NM_001207055.2:c.379G>A	NP_001193984.1:p.Asp127Asn
NM_001207056.2:c.277G>A	NP_001193985.1:p.Asp93Asn
NM_006892.4:c.505G>A MANE Select	NP_008823.1:p.Asp169Asn
NM_175848.2:c.505G>A	NP_787044.1:p.Asp169Asn
NM_175849.2:c.505G>A	NP_787045.1:p.Asp169Asn
NM_175850.3:c.541G>A	NP_787046.1:p.Asp181Asn