Canonical Allele Identifier: CA408586551
Gene: DNMT3B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32787299A>C , CM000682.2:g.32787299A>C GRCh38
NC_000020.10:g.31375105A>C , CM000682.1:g.31375105A>C GRCh37
NC_000020.9:g.30838766A>C NCBI36
NG_007290.1:g.29915A>C , LRG_56:g.29915A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696231.1:c.502A>C ENSP00000512497.1:p.Ile168Leu
ENST00000696232.1:c.502A>C ENSP00000512498.1:p.Ile168Leu
ENST00000696233.1:c.502A>C ENSP00000512499.1:p.Ile168Leu
ENST00000696234.1:n.486A>C
ENST00000696235.1:c.376A>C ENSP00000512500.1:p.Ile126Leu
ENST00000696236.1:c.376A>C ENSP00000512501.1:p.Ile126Leu
ENST00000696237.1:n.608A>C
ENST00000696238.1:c.502A>C ENSP00000512502.1:p.Ile168Leu
ENST00000696239.1:c.502A>C ENSP00000512503.1:p.Ile168Leu
ENST00000201963.3:c.538A>C ENSP00000201963.3:p.Ile180Leu
ENST00000328111.6:c.502A>C MANE Select ENSP00000328547.2:p.Ile168Leu
ENST00000348286.6:c.502A>C ENSP00000337764.2:p.Ile168Leu
ENST00000353855.6:c.502A>C ENSP00000313397.4:p.Ile168Leu
ENST00000443239.7:c.376A>C ENSP00000403169.2:p.Ile126Leu
ENST00000456297.6:c.274A>C ENSP00000412305.1:p.Ile92Leu
NM_001207055.1:c.376A>C NP_001193984.1:p.Ile126Leu
NM_001207056.1:c.274A>C NP_001193985.1:p.Ile92Leu
NM_006892.3:c.502A>C , LRG_56t1:c.502A>C NP_008823.1:p.Ile168Leu
NM_175848.1:c.502A>C NP_787044.1:p.Ile168Leu
NM_175849.1:c.502A>C NP_787045.1:p.Ile168Leu
NM_175850.2:c.538A>C NP_787046.1:p.Ile180Leu
XM_011528653.1:c.538A>C XP_011526955.1:p.Ile180Leu
XM_011528654.1:c.412A>C XP_011526956.1:p.Ile138Leu
XR_936510.1:n.674A>C
XR_936511.1:n.674A>C
XR_936512.1:n.549A>C
XM_011528653.2:c.538A>C XP_011526955.1:p.Ile180Leu
XM_011528654.2:c.412A>C XP_011526956.1:p.Ile138Leu
XR_936510.2:n.685A>C
XR_936511.2:n.685A>C
XR_936512.2:n.561A>C
NM_001207055.2:c.376A>C NP_001193984.1:p.Ile126Leu
NM_001207056.2:c.274A>C NP_001193985.1:p.Ile92Leu
NM_006892.4:c.502A>C MANE Select NP_008823.1:p.Ile168Leu
NM_175848.2:c.502A>C NP_787044.1:p.Ile168Leu
NM_175849.2:c.502A>C NP_787045.1:p.Ile168Leu
NM_175850.3:c.538A>C NP_787046.1:p.Ile180Leu