Canonical Allele Identifier: CA346075768
Community Standard Title: NM_022552.5(DNMT3A):c.835G>A (p.Asp279Asn)
Gene: DNMT3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25248057C>T , CM000664.2:g.25248057C>T GRCh38
NC_000002.11:g.25470926C>T , CM000664.1:g.25470926C>T GRCh37
NC_000002.10:g.25324430C>T NCBI36
NG_029465.2:g.99534G>A , LRG_459:g.99534G>A

Transcript Alleles

HGVS Amino-acid Change
NM_022552.5:c.835G>A MANE Select NP_072046.2:p.Asp279Asn
ENST00000321117.10:c.835G>A MANE Select ENSP00000324375.5:p.Asp279Asn
NM_001320893.1:c.379G>A NP_001307822.1:p.Asp127Asn
NM_001375819.1:c.166G>A NP_001362748.1:p.Asp56Asn
NM_022552.4:c.835G>A , LRG_459t1:c.835G>A NP_072046.2:p.Asp279Asn
NM_153759.3:c.268G>A , LRG_459t2:c.268G>A NP_715640.2:p.Asp90Asn
NM_175629.2:c.835G>A , LRG_459t4:c.835G>A NP_783328.1:p.Asp279Asn
NR_135490.1:n.1173G>A
NR_135490.2:n.1066G>A
ENST00000264709.7:c.835G>A ENSP00000264709.3:p.Asp279Asn
ENST00000321117.9:c.835G>A ENSP00000324375.5:p.Asp279Asn
ENST00000380746.8:c.268G>A ENSP00000370122.4:p.Asp90Asn
ENST00000380756.7:c.835G>A ENSP00000370132.3:p.Asp279Asn
ENST00000402667.1:c.166G>A ENSP00000384237.1:p.Asp56Asn
ENST00000470983.5:n.282G>A
ENST00000496570.1:n.368G>A
ENST00000683760.1:c.166G>A ENSP00000507765.1:p.Asp56Asn
XM_005264175.3:c.835G>A XP_005264232.1:p.Asp279Asn
XM_005264175.5:c.835G>A XP_005264232.1:p.Asp279Asn
XM_005264177.3:c.166G>A XP_005264234.1:p.Asp56Asn
XM_005264177.4:c.166G>A XP_005264234.1:p.Asp56Asn
XM_006711957.2:c.835G>A XP_006712020.1:p.Asp279Asn
XM_006711958.2:c.391G>A XP_006712021.1:p.Asp131Asn
XM_011532662.1:c.688G>A XP_011530964.1:p.Asp230Asn
XM_011532662.2:c.688G>A XP_011530964.1:p.Asp230Asn
XM_011532663.1:c.670G>A XP_011530965.1:p.Asp224Asn
XM_011532663.2:c.670G>A XP_011530965.1:p.Asp224Asn
XM_011532664.1:c.835G>A XP_011530966.1:p.Asp279Asn
XM_011532664.2:c.835G>A XP_011530966.1:p.Asp279Asn
XM_011532665.1:c.379G>A XP_011530967.1:p.Asp127Asn
XM_011532666.1:c.307G>A XP_011530968.1:p.Asp103Asn
XM_011532666.2:c.307G>A XP_011530968.1:p.Asp103Asn
XM_011532667.1:c.166G>A XP_011530969.1:p.Asp56Asn
XM_011532667.3:c.166G>A XP_011530969.1:p.Asp56Asn
XM_011532668.1:c.835G>A XP_011530970.1:p.Asp279Asn
XM_017003526.1:c.835G>A XP_016859015.1:p.Asp279Asn
XM_017003527.1:c.166G>A XP_016859016.1:p.Asp56Asn
XR_001738657.1:n.1112G>A