Canonical Allele Identifier: CA1555700
Community Standard Title: NM_022552.5(DNMT3A):c.2207G>A (p.Arg736His)
Gene: DNMT3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25240417C>T , CM000664.2:g.25240417C>T GRCh38
NC_000002.11:g.25463286C>T , CM000664.1:g.25463286C>T GRCh37
NC_000002.10:g.25316790C>T NCBI36
NG_029465.2:g.107174G>A , LRG_459:g.107174G>A

Transcript Alleles

HGVS Amino-acid Change
NM_022552.5:c.2207G>A MANE Select NP_072046.2:p.Arg736His
ENST00000321117.10:c.2207G>A MANE Select ENSP00000324375.5:p.Arg736His
NM_001320893.1:c.1751G>A NP_001307822.1:p.Arg584His
NM_001375819.1:c.1538G>A NP_001362748.1:p.Arg513His
NM_022552.4:c.2207G>A , LRG_459t1:c.2207G>A NP_072046.2:p.Arg736His
NM_153759.3:c.1640G>A , LRG_459t2:c.1640G>A NP_715640.2:p.Arg547His
NM_175629.2:c.2207G>A , LRG_459t4:c.2207G>A NP_783328.1:p.Arg736His
NR_135490.1:n.2545G>A
NR_135490.2:n.2438G>A
ENST00000264709.7:c.2207G>A ENSP00000264709.3:p.Arg736His
ENST00000321117.9:c.2207G>A ENSP00000324375.5:p.Arg736His
ENST00000380746.8:c.1640G>A ENSP00000370122.4:p.Arg547His
ENST00000380756.7:c.2207G>A ENSP00000370132.3:p.Arg736His
ENST00000402667.1:c.1538G>A ENSP00000384237.1:p.Arg513His
ENST00000461228.1:n.426G>A
ENST00000466601.5:n.579G>A
ENST00000474887.5:n.526G>A
ENST00000474887.6:c.526G>A
ENST00000482935.5:n.207G>A
ENST00000491288.5:n.310+223G>A
ENST00000683393.1:c.1353G>A ENSP00000508654.1:n.1353G>A
ENST00000683760.1:c.1538G>A ENSP00000507765.1:p.Arg513His
XM_005264175.3:c.2207G>A XP_005264232.1:p.Arg736His
XM_005264175.5:c.2207G>A XP_005264232.1:p.Arg736His
XM_005264177.3:c.1538G>A XP_005264234.1:p.Arg513His
XM_005264177.4:c.1538G>A XP_005264234.1:p.Arg513His
XM_006711957.2:c.2207G>A XP_006712020.1:p.Arg736His
XM_006711958.2:c.1763G>A XP_006712021.1:p.Arg588His
XM_011532662.1:c.2060G>A XP_011530964.1:p.Arg687His
XM_011532662.2:c.2060G>A XP_011530964.1:p.Arg687His
XM_011532663.1:c.2042G>A XP_011530965.1:p.Arg681His
XM_011532663.2:c.2042G>A XP_011530965.1:p.Arg681His
XM_011532664.1:c.2207G>A XP_011530966.1:p.Arg736His
XM_011532664.2:c.2207G>A XP_011530966.1:p.Arg736His
XM_011532665.1:c.1751G>A XP_011530967.1:p.Arg584His
XM_011532666.1:c.1679G>A XP_011530968.1:p.Arg560His
XM_011532666.2:c.1679G>A XP_011530968.1:p.Arg560His
XM_011532667.1:c.1538G>A XP_011530969.1:p.Arg513His
XM_011532667.3:c.1538G>A XP_011530969.1:p.Arg513His
XM_011532668.1:c.2207G>A XP_011530970.1:p.Arg736His
XM_017003526.1:c.2207G>A XP_016859015.1:p.Arg736His
XM_017003527.1:c.1538G>A XP_016859016.1:p.Arg513His
XR_001738657.1:n.2484G>A