Canonical Allele Identifier: CA43703730
Gene: DNMT3A HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25244579C>G , CM000664.2:g.25244579C>G GRCh38
NC_000002.11:g.25467448C>G , CM000664.1:g.25467448C>G GRCh37
NC_000002.10:g.25320952C>G NCBI36
NG_029465.2:g.103012G>C , LRG_459:g.103012G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000683393.1:c.774G>C ENSP00000508654.1:n.774G>C
ENST00000683760.1:c.959G>C ENSP00000507765.1:p.Gly320Ala
ENST00000321117.10:c.1628G>C MANE Select ENSP00000324375.5:p.Gly543Ala
ENST00000264709.7:c.1628G>C ENSP00000264709.3:p.Gly543Ala
ENST00000321117.9:c.1628G>C ENSP00000324375.5:p.Gly543Ala
ENST00000380746.8:c.1061G>C ENSP00000370122.4:p.Gly354Ala
ENST00000380756.7:c.1628G>C ENSP00000370132.3:p.Gly543Ala
ENST00000402667.1:c.959G>C ENSP00000384237.1:p.Gly320Ala
NM_022552.4:c.1628G>C , LRG_459t1:c.1628G>C NP_072046.2:p.Gly543Ala
NM_153759.3:c.1061G>C , LRG_459t2:c.1061G>C NP_715640.2:p.Gly354Ala
NM_175629.2:c.1628G>C , LRG_459t4:c.1628G>C NP_783328.1:p.Gly543Ala
XM_005264175.3:c.1628G>C XP_005264232.1:p.Gly543Ala
XM_005264177.3:c.959G>C XP_005264234.1:p.Gly320Ala
XM_006711957.2:c.1628G>C XP_006712020.1:p.Gly543Ala
XM_006711958.2:c.1184G>C XP_006712021.1:p.Gly395Ala
XM_011532662.1:c.1481G>C XP_011530964.1:p.Gly494Ala
XM_011532663.1:c.1463G>C XP_011530965.1:p.Gly488Ala
XM_011532664.1:c.1628G>C XP_011530966.1:p.Gly543Ala
XM_011532665.1:c.1172G>C XP_011530967.1:p.Gly391Ala
XM_011532666.1:c.1100G>C XP_011530968.1:p.Gly367Ala
XM_011532667.1:c.959G>C XP_011530969.1:p.Gly320Ala
XM_011532668.1:c.1628G>C XP_011530970.1:p.Gly543Ala
NM_001320893.1:c.1172G>C NP_001307822.1:p.Gly391Ala
NR_135490.1:n.1966G>C
XM_005264175.5:c.1628G>C XP_005264232.1:p.Gly543Ala
XM_005264177.4:c.959G>C XP_005264234.1:p.Gly320Ala
XM_011532662.2:c.1481G>C XP_011530964.1:p.Gly494Ala
XM_011532663.2:c.1463G>C XP_011530965.1:p.Gly488Ala
XM_011532664.2:c.1628G>C XP_011530966.1:p.Gly543Ala
XM_011532666.2:c.1100G>C XP_011530968.1:p.Gly367Ala
XM_011532667.3:c.959G>C XP_011530969.1:p.Gly320Ala
XM_017003526.1:c.1628G>C XP_016859015.1:p.Gly543Ala
XM_017003527.1:c.959G>C XP_016859016.1:p.Gly320Ala
XR_001738657.1:n.1905G>C
NM_001375819.1:c.959G>C NP_001362748.1:p.Gly320Ala
NR_135490.2:n.1859G>C
NM_022552.5:c.1628G>C MANE Select NP_072046.2:p.Gly543Ala