Canonical Allele Identifier: CA425188855
Community Standard Title: NM_022552.5(DNMT3A):c.576G>A (p.Ala192=)
Gene: DNMT3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25275004C>T , CM000664.2:g.25275004C>T GRCh38
NC_000002.11:g.25497873C>T , CM000664.1:g.25497873C>T GRCh37
NC_000002.10:g.25351377C>T NCBI36
NG_029465.2:g.72587G>A , LRG_459:g.72587G>A

Transcript Alleles

HGVS Amino-acid Change
NM_022552.5:c.576G>A MANE Select NP_072046.2:p.Ala192=
ENST00000321117.10:c.576G>A MANE Select ENSP00000324375.5:p.Ala192=
NM_022552.4:c.576G>A , LRG_459t1:c.576G>A NP_072046.2:p.Ala192=
NM_175629.2:c.576G>A , LRG_459t4:c.576G>A NP_783328.1:p.Ala192=
NR_135490.1:n.914G>A
NR_135490.2:n.807G>A
ENST00000264709.7:c.576G>A ENSP00000264709.3:p.Ala192=
ENST00000321117.9:c.576G>A ENSP00000324375.5:p.Ala192=
ENST00000380756.7:c.576G>A ENSP00000370132.3:p.Ala192=
ENST00000682842.1:n.105G>A
XM_005264175.3:c.576G>A XP_005264232.1:p.Ala192=
XM_005264175.5:c.576G>A XP_005264232.1:p.Ala192=
XM_006711957.2:c.576G>A XP_006712020.1:p.Ala192=
XM_006711958.2:c.132G>A XP_006712021.1:p.Ala44=
XM_011532662.1:c.429G>A XP_011530964.1:p.Ala143=
XM_011532662.2:c.429G>A XP_011530964.1:p.Ala143=
XM_011532663.1:c.411G>A XP_011530965.1:p.Ala137=
XM_011532663.2:c.411G>A XP_011530965.1:p.Ala137=
XM_011532664.1:c.576G>A XP_011530966.1:p.Ala192=
XM_011532664.2:c.576G>A XP_011530966.1:p.Ala192=
XM_011532668.1:c.576G>A XP_011530970.1:p.Ala192=
XM_017003526.1:c.576G>A XP_016859015.1:p.Ala192=
XR_001738657.1:n.853G>A