Canonical Allele Identifier: CA408588387

Gene: DNMT3B

Linked Data

• dbSNP Id: rs1165250227
• gnomAD v2: 20-31388019-G-A
• gnomAD v4: 20-32800213-G-A
• MyVariant Identifiers: chr20:g.31388019G>A (hg19) ; chr20:g.32800213G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32800213G>A , CM000682.2:g.32800213G>A	GRCh38
NC_000020.10:g.31388019G>A , CM000682.1:g.31388019G>A	GRCh37
NC_000020.9:g.30851680G>A	NCBI36
NG_007290.1:g.42829G>A , LRG_56:g.42829G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696231.1:c.*771G>A	ENSP00000512497.1:n.*771G>A
ENST00000696232.1:c.1820G>A	ENSP00000512498.1:p.Cys607Tyr
ENST00000696233.1:c.*563G>A	ENSP00000512499.1:n.*563G>A
ENST00000696235.1:c.*468G>A	ENSP00000512500.1:n.*468G>A
ENST00000696238.1:c.*563G>A	ENSP00000512502.1:n.*563G>A
ENST00000696239.1:c.1601G>A	ENSP00000512503.1:p.Cys534Tyr
ENST00000201963.3:c.1796G>A	ENSP00000201963.3:p.Cys599Tyr
ENST00000328111.6:c.1820G>A MANE Select	ENSP00000328547.2:p.Cys607Tyr
ENST00000348286.6:c.1760G>A	ENSP00000337764.2:p.Cys587Tyr
ENST00000353855.6:c.1760G>A	ENSP00000313397.4:p.Cys587Tyr
ENST00000443239.7:c.1634G>A	ENSP00000403169.2:p.Cys545Tyr
ENST00000456297.6:c.1532G>A	ENSP00000412305.1:p.Cys511Tyr
NM_001207055.1:c.1634G>A	NP_001193984.1:p.Cys545Tyr
NM_001207056.1:c.1532G>A	NP_001193985.1:p.Cys511Tyr
NM_006892.3:c.1820G>A , LRG_56t1:c.1820G>A	NP_008823.1:p.Cys607Tyr
NM_175848.1:c.1760G>A	NP_787044.1:p.Cys587Tyr
NM_175849.1:c.1760G>A	NP_787045.1:p.Cys587Tyr
NM_175850.2:c.1796G>A	NP_787046.1:p.Cys599Tyr
XM_011528653.1:c.1796G>A	XP_011526955.1:p.Cys599Tyr
XM_011528654.1:c.1670G>A	XP_011526956.1:p.Cys557Tyr
XR_936510.1:n.1787G>A
XR_936511.1:n.1787G>A
XR_936512.1:n.1662G>A
XM_011528653.2:c.1796G>A	XP_011526955.1:p.Cys599Tyr
XM_011528654.2:c.1670G>A	XP_011526956.1:p.Cys557Tyr
XR_936510.2:n.1798G>A
XR_936511.2:n.1798G>A
XR_936512.2:n.1674G>A
NM_001207055.2:c.1634G>A	NP_001193984.1:p.Cys545Tyr
NM_001207056.2:c.1532G>A	NP_001193985.1:p.Cys511Tyr
NM_006892.4:c.1820G>A MANE Select	NP_008823.1:p.Cys607Tyr
NM_175848.2:c.1760G>A	NP_787044.1:p.Cys587Tyr
NM_175849.2:c.1760G>A	NP_787045.1:p.Cys587Tyr
NM_175850.3:c.1796G>A	NP_787046.1:p.Cys599Tyr