Canonical Allele Identifier: CA1555542
Community Standard Title: NM_022552.5(DNMT3A):c.2525A>G (p.Gln842Arg)
Gene: DNMT3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25235779T>C , CM000664.2:g.25235779T>C GRCh38
NC_000002.11:g.25458648T>C , CM000664.1:g.25458648T>C GRCh37
NC_000002.10:g.25312152T>C NCBI36
NG_029465.2:g.111812A>G , LRG_459:g.111812A>G

Transcript Alleles

HGVS Amino-acid Change
NM_022552.5:c.2525A>G MANE Select NP_072046.2:p.Gln842Arg
ENST00000321117.10:c.2525A>G MANE Select ENSP00000324375.5:p.Gln842Arg
NM_001320893.1:c.2069A>G NP_001307822.1:p.Gln690Arg
NM_001375819.1:c.1856A>G NP_001362748.1:p.Gln619Arg
NM_022552.4:c.2525A>G , LRG_459t1:c.2525A>G NP_072046.2:p.Gln842Arg
NM_153759.3:c.1958A>G , LRG_459t2:c.1958A>G NP_715640.2:p.Gln653Arg
NM_175629.2:c.2525A>G , LRG_459t4:c.2525A>G NP_783328.1:p.Gln842Arg
NR_135490.1:n.3062A>G
NR_135490.2:n.2955A>G
ENST00000264709.7:c.2525A>G ENSP00000264709.3:p.Gln842Arg
ENST00000321117.9:c.2525A>G ENSP00000324375.5:p.Gln842Arg
ENST00000380746.8:c.1958A>G ENSP00000370122.4:p.Gln653Arg
ENST00000380756.7:c.*378A>G ENSP00000370132.3:n.*378A>G
ENST00000402667.1:c.1856A>G ENSP00000384237.1:p.Gln619Arg
ENST00000474887.5:n.774A>G
ENST00000474887.6:c.774A>G
ENST00000683393.1:c.1671A>G ENSP00000508654.1:n.1671A>G
ENST00000683760.1:c.1856A>G ENSP00000507765.1:p.Gln619Arg
XM_005264175.3:c.2525A>G XP_005264232.1:p.Gln842Arg
XM_005264175.5:c.2525A>G XP_005264232.1:p.Gln842Arg
XM_005264177.3:c.1856A>G XP_005264234.1:p.Gln619Arg
XM_005264177.4:c.1856A>G XP_005264234.1:p.Gln619Arg
XM_006711957.2:c.*34A>G XP_006712020.1:n.*34A>G
XM_006711958.2:c.2081A>G XP_006712021.1:p.Gln694Arg
XM_011532662.1:c.2378A>G XP_011530964.1:p.Gln793Arg
XM_011532662.2:c.2378A>G XP_011530964.1:p.Gln793Arg
XM_011532663.1:c.2360A>G XP_011530965.1:p.Gln787Arg
XM_011532663.2:c.2360A>G XP_011530965.1:p.Gln787Arg
XM_011532665.1:c.2069A>G XP_011530967.1:p.Gln690Arg
XM_011532666.1:c.1997A>G XP_011530968.1:p.Gln666Arg
XM_011532666.2:c.1997A>G XP_011530968.1:p.Gln666Arg
XM_011532667.1:c.1856A>G XP_011530969.1:p.Gln619Arg
XM_011532667.3:c.1856A>G XP_011530969.1:p.Gln619Arg
XM_017003526.1:c.2525A>G XP_016859015.1:p.Gln842Arg
XM_017003527.1:c.1856A>G XP_016859016.1:p.Gln619Arg
XR_001738657.1:n.2732A>G