Canonical Allele Identifier: CA1555496

Gene: DNMT3A

Linked Data

• dbSNP Id: rs773610723
• ExAC: 2:25457270 G / A
• MyVariant Identifiers: chr2:g.25457270G>A (hg19) ; chr2:g.25234401G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234401G>A , CM000664.2:g.25234401G>A	GRCh38
NC_000002.11:g.25457270G>A , CM000664.1:g.25457270G>A	GRCh37
NC_000002.10:g.25310774G>A	NCBI36
NG_029465.2:g.113190C>T , LRG_459:g.113190C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.866C>T
ENST00000683393.1:c.1763C>T	ENSP00000508654.1:n.1763C>T
ENST00000683760.1:c.1948C>T	ENSP00000507765.1:p.His650Tyr
ENST00000321117.10:c.2617C>T MANE Select	ENSP00000324375.5:p.His873Tyr
ENST00000264709.7:c.2617C>T	ENSP00000264709.3:p.His873Tyr
ENST00000321117.9:c.2617C>T	ENSP00000324375.5:p.His873Tyr
ENST00000380746.8:c.2050C>T	ENSP00000370122.4:p.His684Tyr
ENST00000380756.7:c.*470C>T	ENSP00000370132.3:n.*470C>T
ENST00000402667.1:c.1948C>T	ENSP00000384237.1:p.His650Tyr
NM_022552.4:c.2617C>T , LRG_459t1:c.2617C>T	NP_072046.2:p.His873Tyr
NM_153759.3:c.2050C>T , LRG_459t2:c.2050C>T	NP_715640.2:p.His684Tyr
NM_175629.2:c.2617C>T , LRG_459t4:c.2617C>T	NP_783328.1:p.His873Tyr
XM_005264175.3:c.2617C>T	XP_005264232.1:p.His873Tyr
XM_005264177.3:c.1948C>T	XP_005264234.1:p.His650Tyr
XM_006711958.2:c.2173C>T	XP_006712021.1:p.His725Tyr
XM_011532662.1:c.2470C>T	XP_011530964.1:p.His824Tyr
XM_011532663.1:c.2452C>T	XP_011530965.1:p.His818Tyr
XM_011532665.1:c.2161C>T	XP_011530967.1:p.His721Tyr
XM_011532666.1:c.2089C>T	XP_011530968.1:p.His697Tyr
XM_011532667.1:c.1948C>T	XP_011530969.1:p.His650Tyr
NM_001320893.1:c.2161C>T	NP_001307822.1:p.His721Tyr
NR_135490.1:n.3154C>T
XM_005264175.5:c.2617C>T	XP_005264232.1:p.His873Tyr
XM_005264177.4:c.1948C>T	XP_005264234.1:p.His650Tyr
XM_011532662.2:c.2470C>T	XP_011530964.1:p.His824Tyr
XM_011532663.2:c.2452C>T	XP_011530965.1:p.His818Tyr
XM_011532666.2:c.2089C>T	XP_011530968.1:p.His697Tyr
XM_011532667.3:c.1948C>T	XP_011530969.1:p.His650Tyr
XM_017003526.1:c.2617C>T	XP_016859015.1:p.His873Tyr
XM_017003527.1:c.1948C>T	XP_016859016.1:p.His650Tyr
XR_001738657.1:n.2824C>T
NM_001375819.1:c.1948C>T	NP_001362748.1:p.His650Tyr
NR_135490.2:n.3047C>T
NM_022552.5:c.2617C>T MANE Select	NP_072046.2:p.His873Tyr