Canonical Allele Identifier: CA1555701
Community Standard Title: NM_022552.5(DNMT3A):c.2206C>T (p.Arg736Cys)
Gene: DNMT3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25240418G>A , CM000664.2:g.25240418G>A GRCh38
NC_000002.11:g.25463287G>A , CM000664.1:g.25463287G>A GRCh37
NC_000002.10:g.25316791G>A NCBI36
NG_029465.2:g.107173C>T , LRG_459:g.107173C>T

Transcript Alleles

HGVS Amino-acid Change
NM_022552.5:c.2206C>T MANE Select NP_072046.2:p.Arg736Cys
ENST00000321117.10:c.2206C>T MANE Select ENSP00000324375.5:p.Arg736Cys
NM_001320893.1:c.1750C>T NP_001307822.1:p.Arg584Cys
NM_001375819.1:c.1537C>T NP_001362748.1:p.Arg513Cys
NM_022552.4:c.2206C>T , LRG_459t1:c.2206C>T NP_072046.2:p.Arg736Cys
NM_153759.3:c.1639C>T , LRG_459t2:c.1639C>T NP_715640.2:p.Arg547Cys
NM_175629.2:c.2206C>T , LRG_459t4:c.2206C>T NP_783328.1:p.Arg736Cys
NR_135490.1:n.2544C>T
NR_135490.2:n.2437C>T
ENST00000264709.7:c.2206C>T ENSP00000264709.3:p.Arg736Cys
ENST00000321117.9:c.2206C>T ENSP00000324375.5:p.Arg736Cys
ENST00000380746.8:c.1639C>T ENSP00000370122.4:p.Arg547Cys
ENST00000380756.7:c.2206C>T ENSP00000370132.3:p.Arg736Cys
ENST00000402667.1:c.1537C>T ENSP00000384237.1:p.Arg513Cys
ENST00000461228.1:n.425C>T
ENST00000466601.5:n.578C>T
ENST00000474887.5:n.525C>T
ENST00000474887.6:c.525C>T
ENST00000482935.5:n.206C>T
ENST00000491288.5:n.310+222C>T
ENST00000683393.1:c.1352C>T ENSP00000508654.1:n.1352C>T
ENST00000683760.1:c.1537C>T ENSP00000507765.1:p.Arg513Cys
XM_005264175.3:c.2206C>T XP_005264232.1:p.Arg736Cys
XM_005264175.5:c.2206C>T XP_005264232.1:p.Arg736Cys
XM_005264177.3:c.1537C>T XP_005264234.1:p.Arg513Cys
XM_005264177.4:c.1537C>T XP_005264234.1:p.Arg513Cys
XM_006711957.2:c.2206C>T XP_006712020.1:p.Arg736Cys
XM_006711958.2:c.1762C>T XP_006712021.1:p.Arg588Cys
XM_011532662.1:c.2059C>T XP_011530964.1:p.Arg687Cys
XM_011532662.2:c.2059C>T XP_011530964.1:p.Arg687Cys
XM_011532663.1:c.2041C>T XP_011530965.1:p.Arg681Cys
XM_011532663.2:c.2041C>T XP_011530965.1:p.Arg681Cys
XM_011532664.1:c.2206C>T XP_011530966.1:p.Arg736Cys
XM_011532664.2:c.2206C>T XP_011530966.1:p.Arg736Cys
XM_011532665.1:c.1750C>T XP_011530967.1:p.Arg584Cys
XM_011532666.1:c.1678C>T XP_011530968.1:p.Arg560Cys
XM_011532666.2:c.1678C>T XP_011530968.1:p.Arg560Cys
XM_011532667.1:c.1537C>T XP_011530969.1:p.Arg513Cys
XM_011532667.3:c.1537C>T XP_011530969.1:p.Arg513Cys
XM_011532668.1:c.2206C>T XP_011530970.1:p.Arg736Cys
XM_017003526.1:c.2206C>T XP_016859015.1:p.Arg736Cys
XM_017003527.1:c.1537C>T XP_016859016.1:p.Arg513Cys
XR_001738657.1:n.2483C>T