Canonical Allele Identifier: CA346068075
Gene: DNMT3A HGNC NCBI

Linked Data

gnomAD v4: 2-25234322-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25234322C>A , CM000664.2:g.25234322C>A GRCh38
NC_000002.11:g.25457191C>A , CM000664.1:g.25457191C>A GRCh37
NC_000002.10:g.25310695C>A NCBI36
NG_029465.2:g.113269G>T , LRG_459:g.113269G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000474887.6:c.945G>T
ENST00000683393.1:c.1842G>T ENSP00000508654.1:n.1842G>T
ENST00000683760.1:c.2027G>T ENSP00000507765.1:p.Arg676Leu
ENST00000321117.10:c.2696G>T MANE Select ENSP00000324375.5:p.Arg899Leu
ENST00000264709.7:c.2696G>T ENSP00000264709.3:p.Arg899Leu
ENST00000321117.9:c.2696G>T ENSP00000324375.5:p.Arg899Leu
ENST00000380746.8:c.2129G>T ENSP00000370122.4:p.Arg710Leu
ENST00000380756.7:c.*549G>T ENSP00000370132.3:n.*549G>T
ENST00000402667.1:c.2027G>T ENSP00000384237.1:p.Arg676Leu
NM_022552.4:c.2696G>T , LRG_459t1:c.2696G>T NP_072046.2:p.Arg899Leu
NM_153759.3:c.2129G>T , LRG_459t2:c.2129G>T NP_715640.2:p.Arg710Leu
NM_175629.2:c.2696G>T , LRG_459t4:c.2696G>T NP_783328.1:p.Arg899Leu
XM_005264175.3:c.2696G>T XP_005264232.1:p.Arg899Leu
XM_005264177.3:c.2027G>T XP_005264234.1:p.Arg676Leu
XM_006711958.2:c.2252G>T XP_006712021.1:p.Arg751Leu
XM_011532662.1:c.2549G>T XP_011530964.1:p.Arg850Leu
XM_011532663.1:c.2531G>T XP_011530965.1:p.Arg844Leu
XM_011532665.1:c.2240G>T XP_011530967.1:p.Arg747Leu
XM_011532666.1:c.2168G>T XP_011530968.1:p.Arg723Leu
XM_011532667.1:c.2027G>T XP_011530969.1:p.Arg676Leu
NM_001320893.1:c.2240G>T NP_001307822.1:p.Arg747Leu
NR_135490.1:n.3233G>T
XM_005264175.5:c.2696G>T XP_005264232.1:p.Arg899Leu
XM_005264177.4:c.2027G>T XP_005264234.1:p.Arg676Leu
XM_011532662.2:c.2549G>T XP_011530964.1:p.Arg850Leu
XM_011532663.2:c.2531G>T XP_011530965.1:p.Arg844Leu
XM_011532666.2:c.2168G>T XP_011530968.1:p.Arg723Leu
XM_011532667.3:c.2027G>T XP_011530969.1:p.Arg676Leu
XM_017003526.1:c.2696G>T XP_016859015.1:p.Arg899Leu
XM_017003527.1:c.2027G>T XP_016859016.1:p.Arg676Leu
XR_001738657.1:n.2903G>T
NM_001375819.1:c.2027G>T NP_001362748.1:p.Arg676Leu
NR_135490.2:n.3126G>T
NM_022552.5:c.2696G>T MANE Select NP_072046.2:p.Arg899Leu