Canonical Allele Identifier: CA346069463
Community Standard Title: NM_022552.5(DNMT3A):c.2385G>A (p.Trp795Ter)
Gene: DNMT3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25239153C>T , CM000664.2:g.25239153C>T GRCh38
NC_000002.11:g.25462022C>T , CM000664.1:g.25462022C>T GRCh37
NC_000002.10:g.25315526C>T NCBI36
NG_029465.2:g.108438G>A , LRG_459:g.108438G>A

Transcript Alleles

HGVS Amino-acid Change
NM_022552.5:c.2385G>A MANE Select NP_072046.2:p.Trp795Ter
ENST00000321117.10:c.2385G>A MANE Select ENSP00000324375.5:p.Trp795Ter
NM_001320893.1:c.1929G>A NP_001307822.1:p.Trp643Ter
NM_001375819.1:c.1716G>A NP_001362748.1:p.Trp572Ter
NM_022552.4:c.2385G>A , LRG_459t1:c.2385G>A NP_072046.2:p.Trp795Ter
NM_153759.3:c.1818G>A , LRG_459t2:c.1818G>A NP_715640.2:p.Trp606Ter
NM_175629.2:c.2385G>A , LRG_459t4:c.2385G>A NP_783328.1:p.Trp795Ter
NR_135490.1:n.2922G>A
NR_135490.2:n.2815G>A
ENST00000264709.7:c.2385G>A ENSP00000264709.3:p.Trp795Ter
ENST00000321117.9:c.2385G>A ENSP00000324375.5:p.Trp795Ter
ENST00000380746.8:c.1818G>A ENSP00000370122.4:p.Trp606Ter
ENST00000380756.7:c.*238G>A ENSP00000370132.3:n.*238G>A
ENST00000402667.1:c.1716G>A ENSP00000384237.1:p.Trp572Ter
ENST00000466601.5:n.757G>A
ENST00000474887.5:n.704G>A
ENST00000474887.6:c.704G>A
ENST00000482935.5:n.385G>A
ENST00000491288.5:n.373G>A
ENST00000683393.1:c.1531G>A ENSP00000508654.1:n.1531G>A
ENST00000683760.1:c.1716G>A ENSP00000507765.1:p.Trp572Ter
XM_005264175.3:c.2385G>A XP_005264232.1:p.Trp795Ter
XM_005264175.5:c.2385G>A XP_005264232.1:p.Trp795Ter
XM_005264177.3:c.1716G>A XP_005264234.1:p.Trp572Ter
XM_005264177.4:c.1716G>A XP_005264234.1:p.Trp572Ter
XM_006711957.2:c.2385G>A XP_006712020.1:p.Trp795Ter
XM_006711958.2:c.1941G>A XP_006712021.1:p.Trp647Ter
XM_011532662.1:c.2238G>A XP_011530964.1:p.Trp746Ter
XM_011532662.2:c.2238G>A XP_011530964.1:p.Trp746Ter
XM_011532663.1:c.2220G>A XP_011530965.1:p.Trp740Ter
XM_011532663.2:c.2220G>A XP_011530965.1:p.Trp740Ter
XM_011532665.1:c.1929G>A XP_011530967.1:p.Trp643Ter
XM_011532666.1:c.1857G>A XP_011530968.1:p.Trp619Ter
XM_011532666.2:c.1857G>A XP_011530968.1:p.Trp619Ter
XM_011532667.1:c.1716G>A XP_011530969.1:p.Trp572Ter
XM_011532667.3:c.1716G>A XP_011530969.1:p.Trp572Ter
XM_017003526.1:c.2385G>A XP_016859015.1:p.Trp795Ter
XM_017003527.1:c.1716G>A XP_016859016.1:p.Trp572Ter
XR_001738657.1:n.2662G>A