Canonical Allele Identifier: CA1239265214
Gene: DNMT3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25240363A= , CM000664.2:g.25240363A= GRCh38
NC_000002.11:g.25463232A= , CM000664.1:g.25463232A= GRCh37
NC_000002.10:g.25316736A= NCBI36
NG_029465.2:g.107228T= , LRG_459:g.107228T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000474887.6:c.580T=
ENST00000683393.1:c.1407T= ENSP00000508654.1:n.1407T=
ENST00000683760.1:c.1592T= ENSP00000507765.1:p.Leu531=
ENST00000321117.10:c.2261T= MANE Select ENSP00000324375.5:p.Leu754=
ENST00000264709.7:c.2261T= ENSP00000264709.3:p.Leu754=
ENST00000321117.9:c.2261T= ENSP00000324375.5:p.Leu754=
ENST00000380746.8:c.1694T= ENSP00000370122.4:p.Leu565=
ENST00000380756.7:c.2261T= ENSP00000370132.3:p.Leu754=
ENST00000402667.1:c.1592T= ENSP00000384237.1:p.Leu531=
ENST00000461228.1:n.480T=
ENST00000466601.5:n.633T=
ENST00000474887.5:n.580T=
ENST00000482935.5:n.261T=
ENST00000491288.5:n.310+277T=
NM_022552.4:c.2261T= , LRG_459t1:c.2261T= NP_072046.2:p.Leu754=
NM_153759.3:c.1694T= , LRG_459t2:c.1694T= NP_715640.2:p.Leu565=
NM_175629.2:c.2261T= , LRG_459t4:c.2261T= NP_783328.1:p.Leu754=
XM_005264175.3:c.2261T= XP_005264232.1:p.Leu754=
XM_005264177.3:c.1592T= XP_005264234.1:p.Leu531=
XM_006711957.2:c.2261T= XP_006712020.1:p.Leu754=
XM_006711958.2:c.1817T= XP_006712021.1:p.Leu606=
XM_011532662.1:c.2114T= XP_011530964.1:p.Leu705=
XM_011532663.1:c.2096T= XP_011530965.1:p.Leu699=
XM_011532664.1:c.2261T= XP_011530966.1:p.Leu754=
XM_011532665.1:c.1805T= XP_011530967.1:p.Leu602=
XM_011532666.1:c.1733T= XP_011530968.1:p.Leu578=
XM_011532667.1:c.1592T= XP_011530969.1:p.Leu531=
XM_011532668.1:c.2261T= XP_011530970.1:p.Leu754=
NM_001320893.1:c.1805T= NP_001307822.1:p.Leu602=
NR_135490.1:n.2599T=
XM_005264175.5:c.2261T= XP_005264232.1:p.Leu754=
XM_005264177.4:c.1592T= XP_005264234.1:p.Leu531=
XM_011532662.2:c.2114T= XP_011530964.1:p.Leu705=
XM_011532663.2:c.2096T= XP_011530965.1:p.Leu699=
XM_011532664.2:c.2261T= XP_011530966.1:p.Leu754=
XM_011532666.2:c.1733T= XP_011530968.1:p.Leu578=
XM_011532667.3:c.1592T= XP_011530969.1:p.Leu531=
XM_017003526.1:c.2261T= XP_016859015.1:p.Leu754=
XM_017003527.1:c.1592T= XP_016859016.1:p.Leu531=
XR_001738657.1:n.2538T=
NM_001375819.1:c.1592T= NP_001362748.1:p.Leu531=
NR_135490.2:n.2492T=
NM_022552.5:c.2261T= MANE Select NP_072046.2:p.Leu754=