Canonical Allele Identifier: CA163326
Gene: DNMT3A HGNC NCBI

Linked Data

ClinVar Variation Id: 139619
ClinVar RCV Id: RCV000128562
dbSNP Id: rs587777510
gnomAD v2: 2-25457182-A-G
gnomAD v4: 2-25234313-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25234313A>G , CM000664.2:g.25234313A>G GRCh38
NC_000002.11:g.25457182A>G , CM000664.1:g.25457182A>G GRCh37
NC_000002.10:g.25310686A>G NCBI36
NG_029465.2:g.113278T>C , LRG_459:g.113278T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000474887.6:c.954T>C
ENST00000683393.1:c.1851T>C ENSP00000508654.1:n.1851T>C
ENST00000683760.1:c.2036T>C ENSP00000507765.1:p.Phe679Ser
ENST00000321117.10:c.2705T>C MANE Select ENSP00000324375.5:p.Phe902Ser
ENST00000264709.7:c.2705T>C ENSP00000264709.3:p.Phe902Ser
ENST00000321117.9:c.2705T>C ENSP00000324375.5:p.Phe902Ser
ENST00000380746.8:c.2138T>C ENSP00000370122.4:p.Phe713Ser
ENST00000380756.7:c.*558T>C ENSP00000370132.3:n.*558T>C
ENST00000402667.1:c.2036T>C ENSP00000384237.1:p.Phe679Ser
NM_022552.4:c.2705T>C , LRG_459t1:c.2705T>C NP_072046.2:p.Phe902Ser
NM_153759.3:c.2138T>C , LRG_459t2:c.2138T>C NP_715640.2:p.Phe713Ser
NM_175629.2:c.2705T>C , LRG_459t4:c.2705T>C NP_783328.1:p.Phe902Ser
XM_005264175.3:c.2705T>C XP_005264232.1:p.Phe902Ser
XM_005264177.3:c.2036T>C XP_005264234.1:p.Phe679Ser
XM_006711958.2:c.2261T>C XP_006712021.1:p.Phe754Ser
XM_011532662.1:c.2558T>C XP_011530964.1:p.Phe853Ser
XM_011532663.1:c.2540T>C XP_011530965.1:p.Phe847Ser
XM_011532665.1:c.2249T>C XP_011530967.1:p.Phe750Ser
XM_011532666.1:c.2177T>C XP_011530968.1:p.Phe726Ser
XM_011532667.1:c.2036T>C XP_011530969.1:p.Phe679Ser
NM_001320893.1:c.2249T>C NP_001307822.1:p.Phe750Ser
NR_135490.1:n.3242T>C
XM_005264175.5:c.2705T>C XP_005264232.1:p.Phe902Ser
XM_005264177.4:c.2036T>C XP_005264234.1:p.Phe679Ser
XM_011532662.2:c.2558T>C XP_011530964.1:p.Phe853Ser
XM_011532663.2:c.2540T>C XP_011530965.1:p.Phe847Ser
XM_011532666.2:c.2177T>C XP_011530968.1:p.Phe726Ser
XM_011532667.3:c.2036T>C XP_011530969.1:p.Phe679Ser
XM_017003526.1:c.2705T>C XP_016859015.1:p.Phe902Ser
XM_017003527.1:c.2036T>C XP_016859016.1:p.Phe679Ser
XR_001738657.1:n.2912T>C
NM_001375819.1:c.2036T>C NP_001362748.1:p.Phe679Ser
NR_135490.2:n.3135T>C
NM_022552.5:c.2705T>C MANE Select NP_072046.2:p.Phe902Ser