Canonical Allele Identifier: CA1555477
Gene: DNMT3A HGNC NCBI

Linked Data

ClinVar Variation Id: 499517
dbSNP Id: rs763189481
gnomAD v2: 2-25457211-T-C
gnomAD v3: 2-25234342-T-C
gnomAD v4: 2-25234342-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25234342T>C , CM000664.2:g.25234342T>C GRCh38
NC_000002.11:g.25457211T>C , CM000664.1:g.25457211T>C GRCh37
NC_000002.10:g.25310715T>C NCBI36
NG_029465.2:g.113249A>G , LRG_459:g.113249A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000474887.6:c.925A>G
ENST00000683393.1:c.1822A>G ENSP00000508654.1:n.1822A>G
ENST00000683760.1:c.2007A>G ENSP00000507765.1:p.Ser669=
ENST00000321117.10:c.2676A>G MANE Select ENSP00000324375.5:p.Ser892=
ENST00000264709.7:c.2676A>G ENSP00000264709.3:p.Ser892=
ENST00000321117.9:c.2676A>G ENSP00000324375.5:p.Ser892=
ENST00000380746.8:c.2109A>G ENSP00000370122.4:p.Ser703=
ENST00000380756.7:c.*529A>G ENSP00000370132.3:n.*529A>G
ENST00000402667.1:c.2007A>G ENSP00000384237.1:p.Ser669=
NM_022552.4:c.2676A>G , LRG_459t1:c.2676A>G NP_072046.2:p.Ser892=
NM_153759.3:c.2109A>G , LRG_459t2:c.2109A>G NP_715640.2:p.Ser703=
NM_175629.2:c.2676A>G , LRG_459t4:c.2676A>G NP_783328.1:p.Ser892=
XM_005264175.3:c.2676A>G XP_005264232.1:p.Ser892=
XM_005264177.3:c.2007A>G XP_005264234.1:p.Ser669=
XM_006711958.2:c.2232A>G XP_006712021.1:p.Ser744=
XM_011532662.1:c.2529A>G XP_011530964.1:p.Ser843=
XM_011532663.1:c.2511A>G XP_011530965.1:p.Ser837=
XM_011532665.1:c.2220A>G XP_011530967.1:p.Ser740=
XM_011532666.1:c.2148A>G XP_011530968.1:p.Ser716=
XM_011532667.1:c.2007A>G XP_011530969.1:p.Ser669=
NM_001320893.1:c.2220A>G NP_001307822.1:p.Ser740=
NR_135490.1:n.3213A>G
XM_005264175.5:c.2676A>G XP_005264232.1:p.Ser892=
XM_005264177.4:c.2007A>G XP_005264234.1:p.Ser669=
XM_011532662.2:c.2529A>G XP_011530964.1:p.Ser843=
XM_011532663.2:c.2511A>G XP_011530965.1:p.Ser837=
XM_011532666.2:c.2148A>G XP_011530968.1:p.Ser716=
XM_011532667.3:c.2007A>G XP_011530969.1:p.Ser669=
XM_017003526.1:c.2676A>G XP_016859015.1:p.Ser892=
XM_017003527.1:c.2007A>G XP_016859016.1:p.Ser669=
XR_001738657.1:n.2883A>G
NM_001375819.1:c.2007A>G NP_001362748.1:p.Ser669=
NR_135490.2:n.3106A>G
NM_022552.5:c.2676A>G MANE Select NP_072046.2:p.Ser892=