Canonical Allele Identifier: CA346069731
Gene: DNMT3A HGNC NCBI

Linked Data

gnomAD v4: 2-25240330-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25240330T>C , CM000664.2:g.25240330T>C GRCh38
NC_000002.11:g.25463199T>C , CM000664.1:g.25463199T>C GRCh37
NC_000002.10:g.25316703T>C NCBI36
NG_029465.2:g.107261A>G , LRG_459:g.107261A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000474887.6:c.613A>G
ENST00000683393.1:c.1440A>G ENSP00000508654.1:n.1440A>G
ENST00000683760.1:c.1625A>G ENSP00000507765.1:p.Asp542Gly
ENST00000321117.10:c.2294A>G MANE Select ENSP00000324375.5:p.Asp765Gly
ENST00000264709.7:c.2294A>G ENSP00000264709.3:p.Asp765Gly
ENST00000321117.9:c.2294A>G ENSP00000324375.5:p.Asp765Gly
ENST00000380746.8:c.1727A>G ENSP00000370122.4:p.Asp576Gly
ENST00000380756.7:c.2294A>G ENSP00000370132.3:p.Asp765Gly
ENST00000402667.1:c.1625A>G ENSP00000384237.1:p.Asp542Gly
ENST00000461228.1:n.513A>G
ENST00000466601.5:n.666A>G
ENST00000474887.5:n.613A>G
ENST00000482935.5:n.294A>G
ENST00000491288.5:n.310+310A>G
NM_022552.4:c.2294A>G , LRG_459t1:c.2294A>G NP_072046.2:p.Asp765Gly
NM_153759.3:c.1727A>G , LRG_459t2:c.1727A>G NP_715640.2:p.Asp576Gly
NM_175629.2:c.2294A>G , LRG_459t4:c.2294A>G NP_783328.1:p.Asp765Gly
XM_005264175.3:c.2294A>G XP_005264232.1:p.Asp765Gly
XM_005264177.3:c.1625A>G XP_005264234.1:p.Asp542Gly
XM_006711957.2:c.2294A>G XP_006712020.1:p.Asp765Gly
XM_006711958.2:c.1850A>G XP_006712021.1:p.Asp617Gly
XM_011532662.1:c.2147A>G XP_011530964.1:p.Asp716Gly
XM_011532663.1:c.2129A>G XP_011530965.1:p.Asp710Gly
XM_011532664.1:c.2294A>G XP_011530966.1:p.Asp765Gly
XM_011532665.1:c.1838A>G XP_011530967.1:p.Asp613Gly
XM_011532666.1:c.1766A>G XP_011530968.1:p.Asp589Gly
XM_011532667.1:c.1625A>G XP_011530969.1:p.Asp542Gly
XM_011532668.1:c.2294A>G XP_011530970.1:p.Asp765Gly
NM_001320893.1:c.1838A>G NP_001307822.1:p.Asp613Gly
NR_135490.1:n.2632A>G
XM_005264175.5:c.2294A>G XP_005264232.1:p.Asp765Gly
XM_005264177.4:c.1625A>G XP_005264234.1:p.Asp542Gly
XM_011532662.2:c.2147A>G XP_011530964.1:p.Asp716Gly
XM_011532663.2:c.2129A>G XP_011530965.1:p.Asp710Gly
XM_011532664.2:c.2294A>G XP_011530966.1:p.Asp765Gly
XM_011532666.2:c.1766A>G XP_011530968.1:p.Asp589Gly
XM_011532667.3:c.1625A>G XP_011530969.1:p.Asp542Gly
XM_017003526.1:c.2294A>G XP_016859015.1:p.Asp765Gly
XM_017003527.1:c.1625A>G XP_016859016.1:p.Asp542Gly
XR_001738657.1:n.2571A>G
NM_001375819.1:c.1625A>G NP_001362748.1:p.Asp542Gly
NR_135490.2:n.2525A>G
NM_022552.5:c.2294A>G MANE Select NP_072046.2:p.Asp765Gly