Canonical Allele Identifier: CA346069658
Gene: DNMT3A HGNC NCBI

Linked Data

gnomAD v4: 2-25240317-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25240317G>C , CM000664.2:g.25240317G>C GRCh38
NC_000002.11:g.25463186G>C , CM000664.1:g.25463186G>C GRCh37
NC_000002.10:g.25316690G>C NCBI36
NG_029465.2:g.107274C>G , LRG_459:g.107274C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000474887.6:c.626C>G
ENST00000683393.1:c.1453C>G ENSP00000508654.1:n.1453C>G
ENST00000683760.1:c.1638C>G ENSP00000507765.1:p.Ile546Met
ENST00000321117.10:c.2307C>G MANE Select ENSP00000324375.5:p.Ile769Met
ENST00000264709.7:c.2307C>G ENSP00000264709.3:p.Ile769Met
ENST00000321117.9:c.2307C>G ENSP00000324375.5:p.Ile769Met
ENST00000380746.8:c.1740C>G ENSP00000370122.4:p.Ile580Met
ENST00000380756.7:c.2307C>G ENSP00000370132.3:p.Ile769Met
ENST00000402667.1:c.1638C>G ENSP00000384237.1:p.Ile546Met
ENST00000461228.1:n.526C>G
ENST00000466601.5:n.679C>G
ENST00000474887.5:n.626C>G
ENST00000482935.5:n.307C>G
ENST00000491288.5:n.310+323C>G
NM_022552.4:c.2307C>G , LRG_459t1:c.2307C>G NP_072046.2:p.Ile769Met
NM_153759.3:c.1740C>G , LRG_459t2:c.1740C>G NP_715640.2:p.Ile580Met
NM_175629.2:c.2307C>G , LRG_459t4:c.2307C>G NP_783328.1:p.Ile769Met
XM_005264175.3:c.2307C>G XP_005264232.1:p.Ile769Met
XM_005264177.3:c.1638C>G XP_005264234.1:p.Ile546Met
XM_006711957.2:c.2307C>G XP_006712020.1:p.Ile769Met
XM_006711958.2:c.1863C>G XP_006712021.1:p.Ile621Met
XM_011532662.1:c.2160C>G XP_011530964.1:p.Ile720Met
XM_011532663.1:c.2142C>G XP_011530965.1:p.Ile714Met
XM_011532664.1:c.2307C>G XP_011530966.1:p.Ile769Met
XM_011532665.1:c.1851C>G XP_011530967.1:p.Ile617Met
XM_011532666.1:c.1779C>G XP_011530968.1:p.Ile593Met
XM_011532667.1:c.1638C>G XP_011530969.1:p.Ile546Met
XM_011532668.1:c.2307C>G XP_011530970.1:p.Ile769Met
NM_001320893.1:c.1851C>G NP_001307822.1:p.Ile617Met
NR_135490.1:n.2645C>G
XM_005264175.5:c.2307C>G XP_005264232.1:p.Ile769Met
XM_005264177.4:c.1638C>G XP_005264234.1:p.Ile546Met
XM_011532662.2:c.2160C>G XP_011530964.1:p.Ile720Met
XM_011532663.2:c.2142C>G XP_011530965.1:p.Ile714Met
XM_011532664.2:c.2307C>G XP_011530966.1:p.Ile769Met
XM_011532666.2:c.1779C>G XP_011530968.1:p.Ile593Met
XM_011532667.3:c.1638C>G XP_011530969.1:p.Ile546Met
XM_017003526.1:c.2307C>G XP_016859015.1:p.Ile769Met
XM_017003527.1:c.1638C>G XP_016859016.1:p.Ile546Met
XR_001738657.1:n.2584C>G
NM_001375819.1:c.1638C>G NP_001362748.1:p.Ile546Met
NR_135490.2:n.2538C>G
NM_022552.5:c.2307C>G MANE Select NP_072046.2:p.Ile769Met