Canonical Allele Identifier: CA408588426

Gene: DNMT3B

Linked Data

• gnomAD v4: 20-32800230-G-A
• MyVariant Identifiers: chr20:g.31388036G>A (hg19) ; chr20:g.32800230G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32800230G>A , CM000682.2:g.32800230G>A	GRCh38
NC_000020.10:g.31388036G>A , CM000682.1:g.31388036G>A	GRCh37
NC_000020.9:g.30851697G>A	NCBI36
NG_007290.1:g.42846G>A , LRG_56:g.42846G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696231.1:c.*788G>A	ENSP00000512497.1:n.*788G>A
ENST00000696232.1:c.1837G>A	ENSP00000512498.1:p.Val613Ile
ENST00000696233.1:c.*580G>A	ENSP00000512499.1:n.*580G>A
ENST00000696235.1:c.*485G>A	ENSP00000512500.1:n.*485G>A
ENST00000696238.1:c.*580G>A	ENSP00000512502.1:n.*580G>A
ENST00000696239.1:c.1618G>A	ENSP00000512503.1:p.Val540Ile
ENST00000201963.3:c.1813G>A	ENSP00000201963.3:p.Val605Ile
ENST00000328111.6:c.1837G>A MANE Select	ENSP00000328547.2:p.Val613Ile
ENST00000348286.6:c.1777G>A	ENSP00000337764.2:p.Val593Ile
ENST00000353855.6:c.1777G>A	ENSP00000313397.4:p.Val593Ile
ENST00000443239.7:c.1651G>A	ENSP00000403169.2:p.Val551Ile
ENST00000456297.6:c.1549G>A	ENSP00000412305.1:p.Val517Ile
NM_001207055.1:c.1651G>A	NP_001193984.1:p.Val551Ile
NM_001207056.1:c.1549G>A	NP_001193985.1:p.Val517Ile
NM_006892.3:c.1837G>A , LRG_56t1:c.1837G>A	NP_008823.1:p.Val613Ile
NM_175848.1:c.1777G>A	NP_787044.1:p.Val593Ile
NM_175849.1:c.1777G>A	NP_787045.1:p.Val593Ile
NM_175850.2:c.1813G>A	NP_787046.1:p.Val605Ile
XM_011528653.1:c.1813G>A	XP_011526955.1:p.Val605Ile
XM_011528654.1:c.1687G>A	XP_011526956.1:p.Val563Ile
XR_936510.1:n.1804G>A
XR_936511.1:n.1804G>A
XR_936512.1:n.1679G>A
XM_011528653.2:c.1813G>A	XP_011526955.1:p.Val605Ile
XM_011528654.2:c.1687G>A	XP_011526956.1:p.Val563Ile
XR_936510.2:n.1815G>A
XR_936511.2:n.1815G>A
XR_936512.2:n.1691G>A
NM_001207055.2:c.1651G>A	NP_001193984.1:p.Val551Ile
NM_001207056.2:c.1549G>A	NP_001193985.1:p.Val517Ile
NM_006892.4:c.1837G>A MANE Select	NP_008823.1:p.Val613Ile
NM_175848.2:c.1777G>A	NP_787044.1:p.Val593Ile
NM_175849.2:c.1777G>A	NP_787045.1:p.Val593Ile
NM_175850.3:c.1813G>A	NP_787046.1:p.Val605Ile