Canonical Allele Identifier: CA346072131
Community Standard Title: NM_022552.5(DNMT3A):c.1634A>G (p.Glu545Gly)
Gene: DNMT3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25244573T>C , CM000664.2:g.25244573T>C GRCh38
NC_000002.11:g.25467442T>C , CM000664.1:g.25467442T>C GRCh37
NC_000002.10:g.25320946T>C NCBI36
NG_029465.2:g.103018A>G , LRG_459:g.103018A>G

Transcript Alleles

HGVS Amino-acid Change
NM_022552.5:c.1634A>G MANE Select NP_072046.2:p.Glu545Gly
ENST00000321117.10:c.1634A>G MANE Select ENSP00000324375.5:p.Glu545Gly
NM_001320893.1:c.1178A>G NP_001307822.1:p.Glu393Gly
NM_001375819.1:c.965A>G NP_001362748.1:p.Glu322Gly
NM_022552.4:c.1634A>G , LRG_459t1:c.1634A>G NP_072046.2:p.Glu545Gly
NM_153759.3:c.1067A>G , LRG_459t2:c.1067A>G NP_715640.2:p.Glu356Gly
NM_175629.2:c.1634A>G , LRG_459t4:c.1634A>G NP_783328.1:p.Glu545Gly
NR_135490.1:n.1972A>G
NR_135490.2:n.1865A>G
ENST00000264709.7:c.1634A>G ENSP00000264709.3:p.Glu545Gly
ENST00000321117.9:c.1634A>G ENSP00000324375.5:p.Glu545Gly
ENST00000380746.8:c.1067A>G ENSP00000370122.4:p.Glu356Gly
ENST00000380756.7:c.1634A>G ENSP00000370132.3:p.Glu545Gly
ENST00000402667.1:c.965A>G ENSP00000384237.1:p.Glu322Gly
ENST00000683393.1:c.780A>G ENSP00000508654.1:n.780A>G
ENST00000683760.1:c.965A>G ENSP00000507765.1:p.Glu322Gly
XM_005264175.3:c.1634A>G XP_005264232.1:p.Glu545Gly
XM_005264175.5:c.1634A>G XP_005264232.1:p.Glu545Gly
XM_005264177.3:c.965A>G XP_005264234.1:p.Glu322Gly
XM_005264177.4:c.965A>G XP_005264234.1:p.Glu322Gly
XM_006711957.2:c.1634A>G XP_006712020.1:p.Glu545Gly
XM_006711958.2:c.1190A>G XP_006712021.1:p.Glu397Gly
XM_011532662.1:c.1487A>G XP_011530964.1:p.Glu496Gly
XM_011532662.2:c.1487A>G XP_011530964.1:p.Glu496Gly
XM_011532663.1:c.1469A>G XP_011530965.1:p.Glu490Gly
XM_011532663.2:c.1469A>G XP_011530965.1:p.Glu490Gly
XM_011532664.1:c.1634A>G XP_011530966.1:p.Glu545Gly
XM_011532664.2:c.1634A>G XP_011530966.1:p.Glu545Gly
XM_011532665.1:c.1178A>G XP_011530967.1:p.Glu393Gly
XM_011532666.1:c.1106A>G XP_011530968.1:p.Glu369Gly
XM_011532666.2:c.1106A>G XP_011530968.1:p.Glu369Gly
XM_011532667.1:c.965A>G XP_011530969.1:p.Glu322Gly
XM_011532667.3:c.965A>G XP_011530969.1:p.Glu322Gly
XM_011532668.1:c.1634A>G XP_011530970.1:p.Glu545Gly
XM_017003526.1:c.1634A>G XP_016859015.1:p.Glu545Gly
XM_017003527.1:c.965A>G XP_016859016.1:p.Glu322Gly
XR_001738657.1:n.1911A>G