Canonical Allele Identifier: CA346068173
Gene: DNMT3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25234370A>G , CM000664.2:g.25234370A>G GRCh38
NC_000002.11:g.25457239A>G , CM000664.1:g.25457239A>G GRCh37
NC_000002.10:g.25310743A>G NCBI36
NG_029465.2:g.113221T>C , LRG_459:g.113221T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000474887.6:c.897T>C
ENST00000683393.1:c.1794T>C ENSP00000508654.1:n.1794T>C
ENST00000683760.1:c.1979T>C ENSP00000507765.1:p.Leu660Ser
ENST00000321117.10:c.2648T>C MANE Select ENSP00000324375.5:p.Leu883Ser
ENST00000264709.7:c.2648T>C ENSP00000264709.3:p.Leu883Ser
ENST00000321117.9:c.2648T>C ENSP00000324375.5:p.Leu883Ser
ENST00000380746.8:c.2081T>C ENSP00000370122.4:p.Leu694Ser
ENST00000380756.7:c.*501T>C ENSP00000370132.3:n.*501T>C
ENST00000402667.1:c.1979T>C ENSP00000384237.1:p.Leu660Ser
NM_022552.4:c.2648T>C , LRG_459t1:c.2648T>C NP_072046.2:p.Leu883Ser
NM_153759.3:c.2081T>C , LRG_459t2:c.2081T>C NP_715640.2:p.Leu694Ser
NM_175629.2:c.2648T>C , LRG_459t4:c.2648T>C NP_783328.1:p.Leu883Ser
XM_005264175.3:c.2648T>C XP_005264232.1:p.Leu883Ser
XM_005264177.3:c.1979T>C XP_005264234.1:p.Leu660Ser
XM_006711958.2:c.2204T>C XP_006712021.1:p.Leu735Ser
XM_011532662.1:c.2501T>C XP_011530964.1:p.Leu834Ser
XM_011532663.1:c.2483T>C XP_011530965.1:p.Leu828Ser
XM_011532665.1:c.2192T>C XP_011530967.1:p.Leu731Ser
XM_011532666.1:c.2120T>C XP_011530968.1:p.Leu707Ser
XM_011532667.1:c.1979T>C XP_011530969.1:p.Leu660Ser
NM_001320893.1:c.2192T>C NP_001307822.1:p.Leu731Ser
NR_135490.1:n.3185T>C
XM_005264175.5:c.2648T>C XP_005264232.1:p.Leu883Ser
XM_005264177.4:c.1979T>C XP_005264234.1:p.Leu660Ser
XM_011532662.2:c.2501T>C XP_011530964.1:p.Leu834Ser
XM_011532663.2:c.2483T>C XP_011530965.1:p.Leu828Ser
XM_011532666.2:c.2120T>C XP_011530968.1:p.Leu707Ser
XM_011532667.3:c.1979T>C XP_011530969.1:p.Leu660Ser
XM_017003526.1:c.2648T>C XP_016859015.1:p.Leu883Ser
XM_017003527.1:c.1979T>C XP_016859016.1:p.Leu660Ser
XR_001738657.1:n.2855T>C
NM_001375819.1:c.1979T>C NP_001362748.1:p.Leu660Ser
NR_135490.2:n.3078T>C
NM_022552.5:c.2648T>C MANE Select NP_072046.2:p.Leu883Ser