Canonical Allele Identifier: CA346075201
Community Standard Title: NM_022552.5(DNMT3A):c.899T>G (p.Leu300Arg)
Gene: DNMT3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25247706A>C , CM000664.2:g.25247706A>C GRCh38
NC_000002.11:g.25470575A>C , CM000664.1:g.25470575A>C GRCh37
NC_000002.10:g.25324079A>C NCBI36
NG_029465.2:g.99885T>G , LRG_459:g.99885T>G

Transcript Alleles

HGVS Amino-acid Change
NM_022552.5:c.899T>G MANE Select NP_072046.2:p.Leu300Arg
ENST00000321117.10:c.899T>G MANE Select ENSP00000324375.5:p.Leu300Arg
NM_001320893.1:c.443T>G NP_001307822.1:p.Leu148Arg
NM_001375819.1:c.230T>G NP_001362748.1:p.Leu77Arg
NM_022552.4:c.899T>G , LRG_459t1:c.899T>G NP_072046.2:p.Leu300Arg
NM_153759.3:c.332T>G , LRG_459t2:c.332T>G NP_715640.2:p.Leu111Arg
NM_175629.2:c.899T>G , LRG_459t4:c.899T>G NP_783328.1:p.Leu300Arg
NR_135490.1:n.1237T>G
NR_135490.2:n.1130T>G
ENST00000264709.7:c.899T>G ENSP00000264709.3:p.Leu300Arg
ENST00000321117.9:c.899T>G ENSP00000324375.5:p.Leu300Arg
ENST00000380746.8:c.332T>G ENSP00000370122.4:p.Leu111Arg
ENST00000380756.7:c.899T>G ENSP00000370132.3:p.Leu300Arg
ENST00000402667.1:c.230T>G ENSP00000384237.1:p.Leu77Arg
ENST00000470983.5:n.346T>G
ENST00000474807.5:n.194T>G
ENST00000496570.1:n.432T>G
ENST00000683393.1:c.5T>G ENSP00000508654.1:p.Leu2Arg
ENST00000683760.1:c.230T>G ENSP00000507765.1:p.Leu77Arg
XM_005264175.3:c.899T>G XP_005264232.1:p.Leu300Arg
XM_005264175.5:c.899T>G XP_005264232.1:p.Leu300Arg
XM_005264177.3:c.230T>G XP_005264234.1:p.Leu77Arg
XM_005264177.4:c.230T>G XP_005264234.1:p.Leu77Arg
XM_006711957.2:c.899T>G XP_006712020.1:p.Leu300Arg
XM_006711958.2:c.455T>G XP_006712021.1:p.Leu152Arg
XM_011532662.1:c.752T>G XP_011530964.1:p.Leu251Arg
XM_011532662.2:c.752T>G XP_011530964.1:p.Leu251Arg
XM_011532663.1:c.734T>G XP_011530965.1:p.Leu245Arg
XM_011532663.2:c.734T>G XP_011530965.1:p.Leu245Arg
XM_011532664.1:c.899T>G XP_011530966.1:p.Leu300Arg
XM_011532664.2:c.899T>G XP_011530966.1:p.Leu300Arg
XM_011532665.1:c.443T>G XP_011530967.1:p.Leu148Arg
XM_011532666.1:c.371T>G XP_011530968.1:p.Leu124Arg
XM_011532666.2:c.371T>G XP_011530968.1:p.Leu124Arg
XM_011532667.1:c.230T>G XP_011530969.1:p.Leu77Arg
XM_011532667.3:c.230T>G XP_011530969.1:p.Leu77Arg
XM_011532668.1:c.899T>G XP_011530970.1:p.Leu300Arg
XM_017003526.1:c.899T>G XP_016859015.1:p.Leu300Arg
XM_017003527.1:c.230T>G XP_016859016.1:p.Leu77Arg
XR_001738657.1:n.1176T>G