Canonical Allele Identifier: CA408586461

Gene: DNMT3B

Linked Data

• ClinVar Variation Id: 1512683
• ClinVar RCV Id: RCV002023162
• dbSNP Id: rs1230558112
• gnomAD v2: 20-31375060-T-A
• gnomAD v4: 20-32787254-T-A
• MyVariant Identifiers: chr20:g.31375060T>A (hg19) ; chr20:g.32787254T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32787254T>A , CM000682.2:g.32787254T>A	GRCh38
NC_000020.10:g.31375060T>A , CM000682.1:g.31375060T>A	GRCh37
NC_000020.9:g.30838721T>A	NCBI36
NG_007290.1:g.29870T>A , LRG_56:g.29870T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696231.1:c.457T>A	ENSP00000512497.1:p.Ser153Thr
ENST00000696232.1:c.457T>A	ENSP00000512498.1:p.Ser153Thr
ENST00000696233.1:c.457T>A	ENSP00000512499.1:p.Ser153Thr
ENST00000696234.1:n.441T>A
ENST00000696235.1:c.331T>A	ENSP00000512500.1:p.Ser111Thr
ENST00000696236.1:c.331T>A	ENSP00000512501.1:p.Ser111Thr
ENST00000696237.1:n.563T>A
ENST00000696238.1:c.457T>A	ENSP00000512502.1:p.Ser153Thr
ENST00000696239.1:c.457T>A	ENSP00000512503.1:p.Ser153Thr
ENST00000201963.3:c.493T>A	ENSP00000201963.3:p.Ser165Thr
ENST00000328111.6:c.457T>A MANE Select	ENSP00000328547.2:p.Ser153Thr
ENST00000348286.6:c.457T>A	ENSP00000337764.2:p.Ser153Thr
ENST00000353855.6:c.457T>A	ENSP00000313397.4:p.Ser153Thr
ENST00000443239.7:c.331T>A	ENSP00000403169.2:p.Ser111Thr
ENST00000456297.6:c.229T>A	ENSP00000412305.1:p.Ser77Thr
NM_001207055.1:c.331T>A	NP_001193984.1:p.Ser111Thr
NM_001207056.1:c.229T>A	NP_001193985.1:p.Ser77Thr
NM_006892.3:c.457T>A , LRG_56t1:c.457T>A	NP_008823.1:p.Ser153Thr
NM_175848.1:c.457T>A	NP_787044.1:p.Ser153Thr
NM_175849.1:c.457T>A	NP_787045.1:p.Ser153Thr
NM_175850.2:c.493T>A	NP_787046.1:p.Ser165Thr
XM_011528653.1:c.493T>A	XP_011526955.1:p.Ser165Thr
XM_011528654.1:c.367T>A	XP_011526956.1:p.Ser123Thr
XR_936510.1:n.629T>A
XR_936511.1:n.629T>A
XR_936512.1:n.504T>A
XM_011528653.2:c.493T>A	XP_011526955.1:p.Ser165Thr
XM_011528654.2:c.367T>A	XP_011526956.1:p.Ser123Thr
XR_936510.2:n.640T>A
XR_936511.2:n.640T>A
XR_936512.2:n.516T>A
NM_001207055.2:c.331T>A	NP_001193984.1:p.Ser111Thr
NM_001207056.2:c.229T>A	NP_001193985.1:p.Ser77Thr
NM_006892.4:c.457T>A MANE Select	NP_008823.1:p.Ser153Thr
NM_175848.2:c.457T>A	NP_787044.1:p.Ser153Thr
NM_175849.2:c.457T>A	NP_787045.1:p.Ser153Thr
NM_175850.3:c.493T>A	NP_787046.1:p.Ser165Thr