Canonical Allele Identifier: CA9810248

Gene: DNMT3B

Linked Data

• dbSNP Id: rs775867512
• ExAC: 20:31375156 A / G
• gnomAD v2: 20-31375156-A-G
• gnomAD v4: 20-32787350-A-G
• MyVariant Identifiers: chr20:g.31375156A>G (hg19) ; chr20:g.32787350A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32787350A>G , CM000682.2:g.32787350A>G	GRCh38
NC_000020.10:g.31375156A>G , CM000682.1:g.31375156A>G	GRCh37
NC_000020.9:g.30838817A>G	NCBI36
NG_007290.1:g.29966A>G , LRG_56:g.29966A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696231.1:c.553A>G	ENSP00000512497.1:p.Ser185Gly
ENST00000696232.1:c.553A>G	ENSP00000512498.1:p.Ser185Gly
ENST00000696233.1:c.553A>G	ENSP00000512499.1:p.Ser185Gly
ENST00000696234.1:n.537A>G
ENST00000696235.1:c.427A>G	ENSP00000512500.1:p.Ser143Gly
ENST00000696236.1:c.427A>G	ENSP00000512501.1:p.Ser143Gly
ENST00000696237.1:n.659A>G
ENST00000696238.1:c.553A>G	ENSP00000512502.1:p.Ser185Gly
ENST00000696239.1:c.553A>G	ENSP00000512503.1:p.Ser185Gly
ENST00000201963.3:c.589A>G	ENSP00000201963.3:p.Ser197Gly
ENST00000328111.6:c.553A>G MANE Select	ENSP00000328547.2:p.Ser185Gly
ENST00000348286.6:c.553A>G	ENSP00000337764.2:p.Ser185Gly
ENST00000353855.6:c.553A>G	ENSP00000313397.4:p.Ser185Gly
ENST00000443239.7:c.427A>G	ENSP00000403169.2:p.Ser143Gly
ENST00000456297.6:c.325A>G	ENSP00000412305.1:p.Ser109Gly
NM_001207055.1:c.427A>G	NP_001193984.1:p.Ser143Gly
NM_001207056.1:c.325A>G	NP_001193985.1:p.Ser109Gly
NM_006892.3:c.553A>G , LRG_56t1:c.553A>G	NP_008823.1:p.Ser185Gly
NM_175848.1:c.553A>G	NP_787044.1:p.Ser185Gly
NM_175849.1:c.553A>G	NP_787045.1:p.Ser185Gly
NM_175850.2:c.589A>G	NP_787046.1:p.Ser197Gly
XM_011528653.1:c.589A>G	XP_011526955.1:p.Ser197Gly
XM_011528654.1:c.463A>G	XP_011526956.1:p.Ser155Gly
XR_936510.1:n.725A>G
XR_936511.1:n.725A>G
XR_936512.1:n.600A>G
XM_011528653.2:c.589A>G	XP_011526955.1:p.Ser197Gly
XM_011528654.2:c.463A>G	XP_011526956.1:p.Ser155Gly
XR_936510.2:n.736A>G
XR_936511.2:n.736A>G
XR_936512.2:n.612A>G
NM_001207055.2:c.427A>G	NP_001193984.1:p.Ser143Gly
NM_001207056.2:c.325A>G	NP_001193985.1:p.Ser109Gly
NM_006892.4:c.553A>G MANE Select	NP_008823.1:p.Ser185Gly
NM_175848.2:c.553A>G	NP_787044.1:p.Ser185Gly
NM_175849.2:c.553A>G	NP_787045.1:p.Ser185Gly
NM_175850.3:c.589A>G	NP_787046.1:p.Ser197Gly