Canonical Allele Identifier: CA1556221
Community Standard Title: NM_022552.5(DNMT3A):c.994G>A (p.Gly332Arg)
Gene: DNMT3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25247611C>T , CM000664.2:g.25247611C>T GRCh38
NC_000002.11:g.25470480C>T , CM000664.1:g.25470480C>T GRCh37
NC_000002.10:g.25323984C>T NCBI36
NG_029465.2:g.99980G>A , LRG_459:g.99980G>A

Transcript Alleles

HGVS Amino-acid Change
NM_022552.5:c.994G>A MANE Select NP_072046.2:p.Gly332Arg
ENST00000321117.10:c.994G>A MANE Select ENSP00000324375.5:p.Gly332Arg
NM_001320893.1:c.538G>A NP_001307822.1:p.Gly180Arg
NM_001375819.1:c.325G>A NP_001362748.1:p.Gly109Arg
NM_022552.4:c.994G>A , LRG_459t1:c.994G>A NP_072046.2:p.Gly332Arg
NM_153759.3:c.427G>A , LRG_459t2:c.427G>A NP_715640.2:p.Gly143Arg
NM_175629.2:c.994G>A , LRG_459t4:c.994G>A NP_783328.1:p.Gly332Arg
NR_135490.1:n.1332G>A
NR_135490.2:n.1225G>A
ENST00000264709.7:c.994G>A ENSP00000264709.3:p.Gly332Arg
ENST00000321117.9:c.994G>A ENSP00000324375.5:p.Gly332Arg
ENST00000380746.8:c.427G>A ENSP00000370122.4:p.Gly143Arg
ENST00000380756.7:c.994G>A ENSP00000370132.3:p.Gly332Arg
ENST00000402667.1:c.325G>A ENSP00000384237.1:p.Gly109Arg
ENST00000470983.5:n.441G>A
ENST00000474807.5:n.289G>A
ENST00000496570.1:n.527G>A
ENST00000683393.1:c.100G>A ENSP00000508654.1:p.Gly34Arg
ENST00000683760.1:c.325G>A ENSP00000507765.1:p.Gly109Arg
XM_005264175.3:c.994G>A XP_005264232.1:p.Gly332Arg
XM_005264175.5:c.994G>A XP_005264232.1:p.Gly332Arg
XM_005264177.3:c.325G>A XP_005264234.1:p.Gly109Arg
XM_005264177.4:c.325G>A XP_005264234.1:p.Gly109Arg
XM_006711957.2:c.994G>A XP_006712020.1:p.Gly332Arg
XM_006711958.2:c.550G>A XP_006712021.1:p.Gly184Arg
XM_011532662.1:c.847G>A XP_011530964.1:p.Gly283Arg
XM_011532662.2:c.847G>A XP_011530964.1:p.Gly283Arg
XM_011532663.1:c.829G>A XP_011530965.1:p.Gly277Arg
XM_011532663.2:c.829G>A XP_011530965.1:p.Gly277Arg
XM_011532664.1:c.994G>A XP_011530966.1:p.Gly332Arg
XM_011532664.2:c.994G>A XP_011530966.1:p.Gly332Arg
XM_011532665.1:c.538G>A XP_011530967.1:p.Gly180Arg
XM_011532666.1:c.466G>A XP_011530968.1:p.Gly156Arg
XM_011532666.2:c.466G>A XP_011530968.1:p.Gly156Arg
XM_011532667.1:c.325G>A XP_011530969.1:p.Gly109Arg
XM_011532667.3:c.325G>A XP_011530969.1:p.Gly109Arg
XM_011532668.1:c.994G>A XP_011530970.1:p.Gly332Arg
XM_017003526.1:c.994G>A XP_016859015.1:p.Gly332Arg
XM_017003527.1:c.325G>A XP_016859016.1:p.Gly109Arg
XR_001738657.1:n.1271G>A