Canonical Allele Identifier: CA346068072
Gene: DNMT3A HGNC NCBI

Linked Data

gnomAD v4: 2-25234320-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25234320G>A , CM000664.2:g.25234320G>A GRCh38
NC_000002.11:g.25457189G>A , CM000664.1:g.25457189G>A GRCh37
NC_000002.10:g.25310693G>A NCBI36
NG_029465.2:g.113271C>T , LRG_459:g.113271C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000474887.6:c.947C>T
ENST00000683393.1:c.1844C>T ENSP00000508654.1:n.1844C>T
ENST00000683760.1:c.2029C>T ENSP00000507765.1:p.His677Tyr
ENST00000321117.10:c.2698C>T MANE Select ENSP00000324375.5:p.His900Tyr
ENST00000264709.7:c.2698C>T ENSP00000264709.3:p.His900Tyr
ENST00000321117.9:c.2698C>T ENSP00000324375.5:p.His900Tyr
ENST00000380746.8:c.2131C>T ENSP00000370122.4:p.His711Tyr
ENST00000380756.7:c.*551C>T ENSP00000370132.3:n.*551C>T
ENST00000402667.1:c.2029C>T ENSP00000384237.1:p.His677Tyr
NM_022552.4:c.2698C>T , LRG_459t1:c.2698C>T NP_072046.2:p.His900Tyr
NM_153759.3:c.2131C>T , LRG_459t2:c.2131C>T NP_715640.2:p.His711Tyr
NM_175629.2:c.2698C>T , LRG_459t4:c.2698C>T NP_783328.1:p.His900Tyr
XM_005264175.3:c.2698C>T XP_005264232.1:p.His900Tyr
XM_005264177.3:c.2029C>T XP_005264234.1:p.His677Tyr
XM_006711958.2:c.2254C>T XP_006712021.1:p.His752Tyr
XM_011532662.1:c.2551C>T XP_011530964.1:p.His851Tyr
XM_011532663.1:c.2533C>T XP_011530965.1:p.His845Tyr
XM_011532665.1:c.2242C>T XP_011530967.1:p.His748Tyr
XM_011532666.1:c.2170C>T XP_011530968.1:p.His724Tyr
XM_011532667.1:c.2029C>T XP_011530969.1:p.His677Tyr
NM_001320893.1:c.2242C>T NP_001307822.1:p.His748Tyr
NR_135490.1:n.3235C>T
XM_005264175.5:c.2698C>T XP_005264232.1:p.His900Tyr
XM_005264177.4:c.2029C>T XP_005264234.1:p.His677Tyr
XM_011532662.2:c.2551C>T XP_011530964.1:p.His851Tyr
XM_011532663.2:c.2533C>T XP_011530965.1:p.His845Tyr
XM_011532666.2:c.2170C>T XP_011530968.1:p.His724Tyr
XM_011532667.3:c.2029C>T XP_011530969.1:p.His677Tyr
XM_017003526.1:c.2698C>T XP_016859015.1:p.His900Tyr
XM_017003527.1:c.2029C>T XP_016859016.1:p.His677Tyr
XR_001738657.1:n.2905C>T
NM_001375819.1:c.2029C>T NP_001362748.1:p.His677Tyr
NR_135490.2:n.3128C>T
NM_022552.5:c.2698C>T MANE Select NP_072046.2:p.His900Tyr