Canonical Allele Identifier: CA346068066
Gene: DNMT3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25234317G>T , CM000664.2:g.25234317G>T GRCh38
NC_000002.11:g.25457186G>T , CM000664.1:g.25457186G>T GRCh37
NC_000002.10:g.25310690G>T NCBI36
NG_029465.2:g.113274C>A , LRG_459:g.113274C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000474887.6:c.950C>A
ENST00000683393.1:c.1847C>A ENSP00000508654.1:n.1847C>A
ENST00000683760.1:c.2032C>A ENSP00000507765.1:p.Leu678Ile
ENST00000321117.10:c.2701C>A MANE Select ENSP00000324375.5:p.Leu901Ile
ENST00000264709.7:c.2701C>A ENSP00000264709.3:p.Leu901Ile
ENST00000321117.9:c.2701C>A ENSP00000324375.5:p.Leu901Ile
ENST00000380746.8:c.2134C>A ENSP00000370122.4:p.Leu712Ile
ENST00000380756.7:c.*554C>A ENSP00000370132.3:n.*554C>A
ENST00000402667.1:c.2032C>A ENSP00000384237.1:p.Leu678Ile
NM_022552.4:c.2701C>A , LRG_459t1:c.2701C>A NP_072046.2:p.Leu901Ile
NM_153759.3:c.2134C>A , LRG_459t2:c.2134C>A NP_715640.2:p.Leu712Ile
NM_175629.2:c.2701C>A , LRG_459t4:c.2701C>A NP_783328.1:p.Leu901Ile
XM_005264175.3:c.2701C>A XP_005264232.1:p.Leu901Ile
XM_005264177.3:c.2032C>A XP_005264234.1:p.Leu678Ile
XM_006711958.2:c.2257C>A XP_006712021.1:p.Leu753Ile
XM_011532662.1:c.2554C>A XP_011530964.1:p.Leu852Ile
XM_011532663.1:c.2536C>A XP_011530965.1:p.Leu846Ile
XM_011532665.1:c.2245C>A XP_011530967.1:p.Leu749Ile
XM_011532666.1:c.2173C>A XP_011530968.1:p.Leu725Ile
XM_011532667.1:c.2032C>A XP_011530969.1:p.Leu678Ile
NM_001320893.1:c.2245C>A NP_001307822.1:p.Leu749Ile
NR_135490.1:n.3238C>A
XM_005264175.5:c.2701C>A XP_005264232.1:p.Leu901Ile
XM_005264177.4:c.2032C>A XP_005264234.1:p.Leu678Ile
XM_011532662.2:c.2554C>A XP_011530964.1:p.Leu852Ile
XM_011532663.2:c.2536C>A XP_011530965.1:p.Leu846Ile
XM_011532666.2:c.2173C>A XP_011530968.1:p.Leu725Ile
XM_011532667.3:c.2032C>A XP_011530969.1:p.Leu678Ile
XM_017003526.1:c.2701C>A XP_016859015.1:p.Leu901Ile
XM_017003527.1:c.2032C>A XP_016859016.1:p.Leu678Ile
XR_001738657.1:n.2908C>A
NM_001375819.1:c.2032C>A NP_001362748.1:p.Leu678Ile
NR_135490.2:n.3131C>A
NM_022552.5:c.2701C>A MANE Select NP_072046.2:p.Leu901Ile