Canonical Allele Identifier: CA346071516
Gene: DNMT3A HGNC NCBI

Linked Data

dbSNP Id: rs144689354
gnomAD v3: 2-25243931-G-C
gnomAD v4: 2-25243931-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25243931G>C , CM000664.2:g.25243931G>C GRCh38
NC_000002.11:g.25466800G>C , CM000664.1:g.25466800G>C GRCh37
NC_000002.10:g.25320304G>C NCBI36
NG_029465.2:g.103660C>G , LRG_459:g.103660C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000474887.6:c.222C>G
ENST00000683393.1:c.1049C>G ENSP00000508654.1:n.1049C>G
ENST00000683760.1:c.1234C>G ENSP00000507765.1:p.Arg412Gly
ENST00000321117.10:c.1903C>G MANE Select ENSP00000324375.5:p.Arg635Gly
ENST00000264709.7:c.1903C>G ENSP00000264709.3:p.Arg635Gly
ENST00000321117.9:c.1903C>G ENSP00000324375.5:p.Arg635Gly
ENST00000380746.8:c.1336C>G ENSP00000370122.4:p.Arg446Gly
ENST00000380756.7:c.1903C>G ENSP00000370132.3:p.Arg635Gly
ENST00000402667.1:c.1234C>G ENSP00000384237.1:p.Arg412Gly
ENST00000461228.1:n.52C>G
ENST00000474887.5:n.222C>G
ENST00000482935.5:n.49C>G
ENST00000491288.5:n.40C>G
NM_022552.4:c.1903C>G , LRG_459t1:c.1903C>G NP_072046.2:p.Arg635Gly
NM_153759.3:c.1336C>G , LRG_459t2:c.1336C>G NP_715640.2:p.Arg446Gly
NM_175629.2:c.1903C>G , LRG_459t4:c.1903C>G NP_783328.1:p.Arg635Gly
XM_005264175.3:c.1903C>G XP_005264232.1:p.Arg635Gly
XM_005264177.3:c.1234C>G XP_005264234.1:p.Arg412Gly
XM_006711957.2:c.1903C>G XP_006712020.1:p.Arg635Gly
XM_006711958.2:c.1459C>G XP_006712021.1:p.Arg487Gly
XM_011532662.1:c.1756C>G XP_011530964.1:p.Arg586Gly
XM_011532663.1:c.1738C>G XP_011530965.1:p.Arg580Gly
XM_011532664.1:c.1903C>G XP_011530966.1:p.Arg635Gly
XM_011532665.1:c.1447C>G XP_011530967.1:p.Arg483Gly
XM_011532666.1:c.1375C>G XP_011530968.1:p.Arg459Gly
XM_011532667.1:c.1234C>G XP_011530969.1:p.Arg412Gly
XM_011532668.1:c.1903C>G XP_011530970.1:p.Arg635Gly
NM_001320893.1:c.1447C>G NP_001307822.1:p.Arg483Gly
NR_135490.1:n.2241C>G
XM_005264175.5:c.1903C>G XP_005264232.1:p.Arg635Gly
XM_005264177.4:c.1234C>G XP_005264234.1:p.Arg412Gly
XM_011532662.2:c.1756C>G XP_011530964.1:p.Arg586Gly
XM_011532663.2:c.1738C>G XP_011530965.1:p.Arg580Gly
XM_011532664.2:c.1903C>G XP_011530966.1:p.Arg635Gly
XM_011532666.2:c.1375C>G XP_011530968.1:p.Arg459Gly
XM_011532667.3:c.1234C>G XP_011530969.1:p.Arg412Gly
XM_017003526.1:c.1903C>G XP_016859015.1:p.Arg635Gly
XM_017003527.1:c.1234C>G XP_016859016.1:p.Arg412Gly
XR_001738657.1:n.2180C>G
NM_001375819.1:c.1234C>G NP_001362748.1:p.Arg412Gly
NR_135490.2:n.2134C>G
NM_022552.5:c.1903C>G MANE Select NP_072046.2:p.Arg635Gly