Canonical Allele Identifier: CA346068830

Gene: DNMT3A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25235809G>A , CM000664.2:g.25235809G>A	GRCh38
NC_000002.11:g.25458678G>A , CM000664.1:g.25458678G>A	GRCh37
NC_000002.10:g.25312182G>A	NCBI36
NG_029465.2:g.111782C>T , LRG_459:g.111782C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022552.5:c.2495C>T MANE Select	NP_072046.2:p.Thr832Ile
ENST00000321117.10:c.2495C>T MANE Select	ENSP00000324375.5:p.Thr832Ile
NM_001320893.1:c.2039C>T	NP_001307822.1:p.Thr680Ile
NM_001375819.1:c.1826C>T	NP_001362748.1:p.Thr609Ile
NM_022552.4:c.2495C>T , LRG_459t1:c.2495C>T	NP_072046.2:p.Thr832Ile
NM_153759.3:c.1928C>T , LRG_459t2:c.1928C>T	NP_715640.2:p.Thr643Ile
NM_175629.2:c.2495C>T , LRG_459t4:c.2495C>T	NP_783328.1:p.Thr832Ile
NR_135490.1:n.3032C>T
NR_135490.2:n.2925C>T
ENST00000264709.7:c.2495C>T	ENSP00000264709.3:p.Thr832Ile
ENST00000321117.9:c.2495C>T	ENSP00000324375.5:p.Thr832Ile
ENST00000380746.8:c.1928C>T	ENSP00000370122.4:p.Thr643Ile
ENST00000380756.7:c.*348C>T	ENSP00000370132.3:n.*348C>T
ENST00000402667.1:c.1826C>T	ENSP00000384237.1:p.Thr609Ile
ENST00000474887.5:n.744C>T
ENST00000474887.6:c.744C>T
ENST00000482935.5:n.495C>T
ENST00000683393.1:c.1641C>T	ENSP00000508654.1:n.1641C>T
ENST00000683760.1:c.1826C>T	ENSP00000507765.1:p.Thr609Ile
XM_005264175.3:c.2495C>T	XP_005264232.1:p.Thr832Ile
XM_005264175.5:c.2495C>T	XP_005264232.1:p.Thr832Ile
XM_005264177.3:c.1826C>T	XP_005264234.1:p.Thr609Ile
XM_005264177.4:c.1826C>T	XP_005264234.1:p.Thr609Ile
XM_006711957.2:c.*4C>T	XP_006712020.1:n.*4C>T
XM_006711958.2:c.2051C>T	XP_006712021.1:p.Thr684Ile
XM_011532662.1:c.2348C>T	XP_011530964.1:p.Thr783Ile
XM_011532662.2:c.2348C>T	XP_011530964.1:p.Thr783Ile
XM_011532663.1:c.2330C>T	XP_011530965.1:p.Thr777Ile
XM_011532663.2:c.2330C>T	XP_011530965.1:p.Thr777Ile
XM_011532665.1:c.2039C>T	XP_011530967.1:p.Thr680Ile
XM_011532666.1:c.1967C>T	XP_011530968.1:p.Thr656Ile
XM_011532666.2:c.1967C>T	XP_011530968.1:p.Thr656Ile
XM_011532667.1:c.1826C>T	XP_011530969.1:p.Thr609Ile
XM_011532667.3:c.1826C>T	XP_011530969.1:p.Thr609Ile
XM_017003526.1:c.2495C>T	XP_016859015.1:p.Thr832Ile
XM_017003527.1:c.1826C>T	XP_016859016.1:p.Thr609Ile
XR_001738657.1:n.2702C>T