Canonical Allele Identifier: CA346071842
Community Standard Title: NM_022552.5(DNMT3A):c.1757G>T (p.Cys586Phe)
Gene: DNMT3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25244249C>A , CM000664.2:g.25244249C>A GRCh38
NC_000002.11:g.25467118C>A , CM000664.1:g.25467118C>A GRCh37
NC_000002.10:g.25320622C>A NCBI36
NG_029465.2:g.103342G>T , LRG_459:g.103342G>T

Transcript Alleles

HGVS Amino-acid Change
NM_022552.5:c.1757G>T MANE Select NP_072046.2:p.Cys586Phe
ENST00000321117.10:c.1757G>T MANE Select ENSP00000324375.5:p.Cys586Phe
NM_001320893.1:c.1301G>T NP_001307822.1:p.Cys434Phe
NM_001375819.1:c.1088G>T NP_001362748.1:p.Cys363Phe
NM_022552.4:c.1757G>T , LRG_459t1:c.1757G>T NP_072046.2:p.Cys586Phe
NM_153759.3:c.1190G>T , LRG_459t2:c.1190G>T NP_715640.2:p.Cys397Phe
NM_175629.2:c.1757G>T , LRG_459t4:c.1757G>T NP_783328.1:p.Cys586Phe
NR_135490.1:n.2095G>T
NR_135490.2:n.1988G>T
ENST00000264709.7:c.1757G>T ENSP00000264709.3:p.Cys586Phe
ENST00000321117.9:c.1757G>T ENSP00000324375.5:p.Cys586Phe
ENST00000380746.8:c.1190G>T ENSP00000370122.4:p.Cys397Phe
ENST00000380756.7:c.1757G>T ENSP00000370132.3:p.Cys586Phe
ENST00000402667.1:c.1088G>T ENSP00000384237.1:p.Cys363Phe
ENST00000474887.5:n.76G>T
ENST00000474887.6:c.76G>T
ENST00000683393.1:c.903G>T ENSP00000508654.1:n.903G>T
ENST00000683760.1:c.1088G>T ENSP00000507765.1:p.Cys363Phe
XM_005264175.3:c.1757G>T XP_005264232.1:p.Cys586Phe
XM_005264175.5:c.1757G>T XP_005264232.1:p.Cys586Phe
XM_005264177.3:c.1088G>T XP_005264234.1:p.Cys363Phe
XM_005264177.4:c.1088G>T XP_005264234.1:p.Cys363Phe
XM_006711957.2:c.1757G>T XP_006712020.1:p.Cys586Phe
XM_006711958.2:c.1313G>T XP_006712021.1:p.Cys438Phe
XM_011532662.1:c.1610G>T XP_011530964.1:p.Cys537Phe
XM_011532662.2:c.1610G>T XP_011530964.1:p.Cys537Phe
XM_011532663.1:c.1592G>T XP_011530965.1:p.Cys531Phe
XM_011532663.2:c.1592G>T XP_011530965.1:p.Cys531Phe
XM_011532664.1:c.1757G>T XP_011530966.1:p.Cys586Phe
XM_011532664.2:c.1757G>T XP_011530966.1:p.Cys586Phe
XM_011532665.1:c.1301G>T XP_011530967.1:p.Cys434Phe
XM_011532666.1:c.1229G>T XP_011530968.1:p.Cys410Phe
XM_011532666.2:c.1229G>T XP_011530968.1:p.Cys410Phe
XM_011532667.1:c.1088G>T XP_011530969.1:p.Cys363Phe
XM_011532667.3:c.1088G>T XP_011530969.1:p.Cys363Phe
XM_011532668.1:c.1757G>T XP_011530970.1:p.Cys586Phe
XM_017003526.1:c.1757G>T XP_016859015.1:p.Cys586Phe
XM_017003527.1:c.1088G>T XP_016859016.1:p.Cys363Phe
XR_001738657.1:n.2034G>T