Canonical Allele Identifier: CA346072114
Community Standard Title: NM_022552.5(DNMT3A):c.1643T>G (p.Met548Arg)
Gene: DNMT3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25244564A>C , CM000664.2:g.25244564A>C GRCh38
NC_000002.11:g.25467433A>C , CM000664.1:g.25467433A>C GRCh37
NC_000002.10:g.25320937A>C NCBI36
NG_029465.2:g.103027T>G , LRG_459:g.103027T>G

Transcript Alleles

HGVS Amino-acid Change
NM_022552.5:c.1643T>G MANE Select NP_072046.2:p.Met548Arg
ENST00000321117.10:c.1643T>G MANE Select ENSP00000324375.5:p.Met548Arg
NM_001320893.1:c.1187T>G NP_001307822.1:p.Met396Arg
NM_001375819.1:c.974T>G NP_001362748.1:p.Met325Arg
NM_022552.4:c.1643T>G , LRG_459t1:c.1643T>G NP_072046.2:p.Met548Arg
NM_153759.3:c.1076T>G , LRG_459t2:c.1076T>G NP_715640.2:p.Met359Arg
NM_175629.2:c.1643T>G , LRG_459t4:c.1643T>G NP_783328.1:p.Met548Arg
NR_135490.1:n.1981T>G
NR_135490.2:n.1874T>G
ENST00000264709.7:c.1643T>G ENSP00000264709.3:p.Met548Arg
ENST00000321117.9:c.1643T>G ENSP00000324375.5:p.Met548Arg
ENST00000380746.8:c.1076T>G ENSP00000370122.4:p.Met359Arg
ENST00000380756.7:c.1643T>G ENSP00000370132.3:p.Met548Arg
ENST00000402667.1:c.974T>G ENSP00000384237.1:p.Met325Arg
ENST00000683393.1:c.789T>G ENSP00000508654.1:n.789T>G
ENST00000683760.1:c.974T>G ENSP00000507765.1:p.Met325Arg
XM_005264175.3:c.1643T>G XP_005264232.1:p.Met548Arg
XM_005264175.5:c.1643T>G XP_005264232.1:p.Met548Arg
XM_005264177.3:c.974T>G XP_005264234.1:p.Met325Arg
XM_005264177.4:c.974T>G XP_005264234.1:p.Met325Arg
XM_006711957.2:c.1643T>G XP_006712020.1:p.Met548Arg
XM_006711958.2:c.1199T>G XP_006712021.1:p.Met400Arg
XM_011532662.1:c.1496T>G XP_011530964.1:p.Met499Arg
XM_011532662.2:c.1496T>G XP_011530964.1:p.Met499Arg
XM_011532663.1:c.1478T>G XP_011530965.1:p.Met493Arg
XM_011532663.2:c.1478T>G XP_011530965.1:p.Met493Arg
XM_011532664.1:c.1643T>G XP_011530966.1:p.Met548Arg
XM_011532664.2:c.1643T>G XP_011530966.1:p.Met548Arg
XM_011532665.1:c.1187T>G XP_011530967.1:p.Met396Arg
XM_011532666.1:c.1115T>G XP_011530968.1:p.Met372Arg
XM_011532666.2:c.1115T>G XP_011530968.1:p.Met372Arg
XM_011532667.1:c.974T>G XP_011530969.1:p.Met325Arg
XM_011532667.3:c.974T>G XP_011530969.1:p.Met325Arg
XM_011532668.1:c.1643T>G XP_011530970.1:p.Met548Arg
XM_017003526.1:c.1643T>G XP_016859015.1:p.Met548Arg
XM_017003527.1:c.974T>G XP_016859016.1:p.Met325Arg
XR_001738657.1:n.1920T>G