Canonical Allele Identifier: CA346068252
Gene: DNMT3A HGNC NCBI

Linked Data

gnomAD v4: 2-25234407-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25234407G>C , CM000664.2:g.25234407G>C GRCh38
NC_000002.11:g.25457276G>C , CM000664.1:g.25457276G>C GRCh37
NC_000002.10:g.25310780G>C NCBI36
NG_029465.2:g.113184C>G , LRG_459:g.113184C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000474887.6:c.860C>G
ENST00000683393.1:c.1757C>G ENSP00000508654.1:n.1757C>G
ENST00000683760.1:c.1942C>G ENSP00000507765.1:p.Pro648Ala
ENST00000321117.10:c.2611C>G MANE Select ENSP00000324375.5:p.Pro871Ala
ENST00000264709.7:c.2611C>G ENSP00000264709.3:p.Pro871Ala
ENST00000321117.9:c.2611C>G ENSP00000324375.5:p.Pro871Ala
ENST00000380746.8:c.2044C>G ENSP00000370122.4:p.Pro682Ala
ENST00000380756.7:c.*464C>G ENSP00000370132.3:n.*464C>G
ENST00000402667.1:c.1942C>G ENSP00000384237.1:p.Pro648Ala
NM_022552.4:c.2611C>G , LRG_459t1:c.2611C>G NP_072046.2:p.Pro871Ala
NM_153759.3:c.2044C>G , LRG_459t2:c.2044C>G NP_715640.2:p.Pro682Ala
NM_175629.2:c.2611C>G , LRG_459t4:c.2611C>G NP_783328.1:p.Pro871Ala
XM_005264175.3:c.2611C>G XP_005264232.1:p.Pro871Ala
XM_005264177.3:c.1942C>G XP_005264234.1:p.Pro648Ala
XM_006711958.2:c.2167C>G XP_006712021.1:p.Pro723Ala
XM_011532662.1:c.2464C>G XP_011530964.1:p.Pro822Ala
XM_011532663.1:c.2446C>G XP_011530965.1:p.Pro816Ala
XM_011532665.1:c.2155C>G XP_011530967.1:p.Pro719Ala
XM_011532666.1:c.2083C>G XP_011530968.1:p.Pro695Ala
XM_011532667.1:c.1942C>G XP_011530969.1:p.Pro648Ala
NM_001320893.1:c.2155C>G NP_001307822.1:p.Pro719Ala
NR_135490.1:n.3148C>G
XM_005264175.5:c.2611C>G XP_005264232.1:p.Pro871Ala
XM_005264177.4:c.1942C>G XP_005264234.1:p.Pro648Ala
XM_011532662.2:c.2464C>G XP_011530964.1:p.Pro822Ala
XM_011532663.2:c.2446C>G XP_011530965.1:p.Pro816Ala
XM_011532666.2:c.2083C>G XP_011530968.1:p.Pro695Ala
XM_011532667.3:c.1942C>G XP_011530969.1:p.Pro648Ala
XM_017003526.1:c.2611C>G XP_016859015.1:p.Pro871Ala
XM_017003527.1:c.1942C>G XP_016859016.1:p.Pro648Ala
XR_001738657.1:n.2818C>G
NM_001375819.1:c.1942C>G NP_001362748.1:p.Pro648Ala
NR_135490.2:n.3041C>G
NM_022552.5:c.2611C>G MANE Select NP_072046.2:p.Pro871Ala