Canonical Allele Identifier: CA346068043
Gene: DNMT3A HGNC NCBI

Linked Data

dbSNP Id: rs1240890824
gnomAD v2: 2-25457171-T-C
gnomAD v3: 2-25234302-T-C
gnomAD v4: 2-25234302-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25234302T>C , CM000664.2:g.25234302T>C GRCh38
NC_000002.11:g.25457171T>C , CM000664.1:g.25457171T>C GRCh37
NC_000002.10:g.25310675T>C NCBI36
NG_029465.2:g.113289A>G , LRG_459:g.113289A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000474887.6:c.965A>G
ENST00000683393.1:c.1862A>G ENSP00000508654.1:n.1862A>G
ENST00000683760.1:c.2047A>G ENSP00000507765.1:p.Lys683Glu
ENST00000321117.10:c.2716A>G MANE Select ENSP00000324375.5:p.Lys906Glu
ENST00000264709.7:c.2716A>G ENSP00000264709.3:p.Lys906Glu
ENST00000321117.9:c.2716A>G ENSP00000324375.5:p.Lys906Glu
ENST00000380746.8:c.2149A>G ENSP00000370122.4:p.Lys717Glu
ENST00000380756.7:c.*569A>G ENSP00000370132.3:n.*569A>G
ENST00000402667.1:c.2047A>G ENSP00000384237.1:p.Lys683Glu
NM_022552.4:c.2716A>G , LRG_459t1:c.2716A>G NP_072046.2:p.Lys906Glu
NM_153759.3:c.2149A>G , LRG_459t2:c.2149A>G NP_715640.2:p.Lys717Glu
NM_175629.2:c.2716A>G , LRG_459t4:c.2716A>G NP_783328.1:p.Lys906Glu
XM_005264175.3:c.2716A>G XP_005264232.1:p.Lys906Glu
XM_005264177.3:c.2047A>G XP_005264234.1:p.Lys683Glu
XM_006711958.2:c.2272A>G XP_006712021.1:p.Lys758Glu
XM_011532662.1:c.2569A>G XP_011530964.1:p.Lys857Glu
XM_011532663.1:c.2551A>G XP_011530965.1:p.Lys851Glu
XM_011532665.1:c.2260A>G XP_011530967.1:p.Lys754Glu
XM_011532666.1:c.2188A>G XP_011530968.1:p.Lys730Glu
XM_011532667.1:c.2047A>G XP_011530969.1:p.Lys683Glu
NM_001320893.1:c.2260A>G NP_001307822.1:p.Lys754Glu
NR_135490.1:n.3253A>G
XM_005264175.5:c.2716A>G XP_005264232.1:p.Lys906Glu
XM_005264177.4:c.2047A>G XP_005264234.1:p.Lys683Glu
XM_011532662.2:c.2569A>G XP_011530964.1:p.Lys857Glu
XM_011532663.2:c.2551A>G XP_011530965.1:p.Lys851Glu
XM_011532666.2:c.2188A>G XP_011530968.1:p.Lys730Glu
XM_011532667.3:c.2047A>G XP_011530969.1:p.Lys683Glu
XM_017003526.1:c.2716A>G XP_016859015.1:p.Lys906Glu
XM_017003527.1:c.2047A>G XP_016859016.1:p.Lys683Glu
XR_001738657.1:n.2923A>G
NM_001375819.1:c.2047A>G NP_001362748.1:p.Lys683Glu
NR_135490.2:n.3146A>G
NM_022552.5:c.2716A>G MANE Select NP_072046.2:p.Lys906Glu