Canonical Allele Identifier: CA44279226
Community Standard Title: NM_022552.5(DNMT3A):c.58G>A (p.Glu20Lys)
Gene: DNMT3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25313927C>T , CM000664.2:g.25313927C>T GRCh38
NC_000002.11:g.25536796C>T , CM000664.1:g.25536796C>T GRCh37
NC_000002.10:g.25390300C>T NCBI36
NG_029465.2:g.33664G>A , LRG_459:g.33664G>A

Transcript Alleles

HGVS Amino-acid Change
NM_022552.5:c.58G>A MANE Select NP_072046.2:p.Glu20Lys
ENST00000321117.10:c.58G>A MANE Select ENSP00000324375.5:p.Glu20Lys
NM_001320892.1:c.58G>A NP_001307821.1:p.Glu20Lys
NM_001320892.2:c.58G>A NP_001307821.1:p.Glu20Lys
NM_022552.4:c.58G>A , LRG_459t1:c.58G>A NP_072046.2:p.Glu20Lys
NM_175629.2:c.58G>A , LRG_459t4:c.58G>A NP_783328.1:p.Glu20Lys
NM_175630.1:c.58G>A , LRG_459t3:c.58G>A NP_783329.1:p.Glu20Lys
NR_135490.1:n.396G>A
NR_135490.2:n.289G>A
ENST00000264709.7:c.58G>A ENSP00000264709.3:p.Glu20Lys
ENST00000321117.9:c.58G>A ENSP00000324375.5:p.Glu20Lys
ENST00000380756.7:c.58G>A ENSP00000370132.3:p.Glu20Lys
ENST00000406659.3:c.58G>A ENSP00000384852.3:p.Glu20Lys
XM_005264175.3:c.58G>A XP_005264232.1:p.Glu20Lys
XM_005264175.5:c.58G>A XP_005264232.1:p.Glu20Lys
XM_006711957.2:c.58G>A XP_006712020.1:p.Glu20Lys
XM_011532663.1:c.-211G>A XP_011530965.1:n.-211G>A
XM_011532663.2:c.-211G>A XP_011530965.1:n.-211G>A
XM_011532664.1:c.58G>A XP_011530966.1:p.Glu20Lys
XM_011532664.2:c.58G>A XP_011530966.1:p.Glu20Lys
XM_011532668.1:c.58G>A XP_011530970.1:p.Glu20Lys
XM_017003526.1:c.58G>A XP_016859015.1:p.Glu20Lys
XR_001738657.1:n.335G>A