Canonical Allele Identifier: CA1555759

Gene: DNMT3A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240727G>A , CM000664.2:g.25240727G>A	GRCh38
NC_000002.11:g.25463596G>A , CM000664.1:g.25463596G>A	GRCh37
NC_000002.10:g.25317100G>A	NCBI36
NG_029465.2:g.106864C>T , LRG_459:g.106864C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022552.5:c.2086C>T MANE Select	NP_072046.2:p.Gln696Ter
ENST00000321117.10:c.2086C>T MANE Select	ENSP00000324375.5:p.Gln696Ter
NM_001320893.1:c.1630C>T	NP_001307822.1:p.Gln544Ter
NM_001375819.1:c.1417C>T	NP_001362748.1:p.Gln473Ter
NM_022552.4:c.2086C>T , LRG_459t1:c.2086C>T	NP_072046.2:p.Gln696Ter
NM_153759.3:c.1519C>T , LRG_459t2:c.1519C>T	NP_715640.2:p.Gln507Ter
NM_175629.2:c.2086C>T , LRG_459t4:c.2086C>T	NP_783328.1:p.Gln696Ter
NR_135490.1:n.2424C>T
NR_135490.2:n.2317C>T
ENST00000264709.7:c.2086C>T	ENSP00000264709.3:p.Gln696Ter
ENST00000321117.9:c.2086C>T	ENSP00000324375.5:p.Gln696Ter
ENST00000380746.8:c.1519C>T	ENSP00000370122.4:p.Gln507Ter
ENST00000380756.7:c.2086C>T	ENSP00000370132.3:p.Gln696Ter
ENST00000402667.1:c.1417C>T	ENSP00000384237.1:p.Gln473Ter
ENST00000461228.1:n.305C>T
ENST00000466601.5:n.458C>T
ENST00000474887.5:n.405C>T
ENST00000474887.6:c.405C>T
ENST00000482935.5:n.86C>T
ENST00000491288.5:n.223C>T
ENST00000683393.1:c.1232C>T	ENSP00000508654.1:n.1232C>T
ENST00000683760.1:c.1417C>T	ENSP00000507765.1:p.Gln473Ter
XM_005264175.3:c.2086C>T	XP_005264232.1:p.Gln696Ter
XM_005264175.5:c.2086C>T	XP_005264232.1:p.Gln696Ter
XM_005264177.3:c.1417C>T	XP_005264234.1:p.Gln473Ter
XM_005264177.4:c.1417C>T	XP_005264234.1:p.Gln473Ter
XM_006711957.2:c.2086C>T	XP_006712020.1:p.Gln696Ter
XM_006711958.2:c.1642C>T	XP_006712021.1:p.Gln548Ter
XM_011532662.1:c.1939C>T	XP_011530964.1:p.Gln647Ter
XM_011532662.2:c.1939C>T	XP_011530964.1:p.Gln647Ter
XM_011532663.1:c.1921C>T	XP_011530965.1:p.Gln641Ter
XM_011532663.2:c.1921C>T	XP_011530965.1:p.Gln641Ter
XM_011532664.1:c.2086C>T	XP_011530966.1:p.Gln696Ter
XM_011532664.2:c.2086C>T	XP_011530966.1:p.Gln696Ter
XM_011532665.1:c.1630C>T	XP_011530967.1:p.Gln544Ter
XM_011532666.1:c.1558C>T	XP_011530968.1:p.Gln520Ter
XM_011532666.2:c.1558C>T	XP_011530968.1:p.Gln520Ter
XM_011532667.1:c.1417C>T	XP_011530969.1:p.Gln473Ter
XM_011532667.3:c.1417C>T	XP_011530969.1:p.Gln473Ter
XM_011532668.1:c.2086C>T	XP_011530970.1:p.Gln696Ter
XM_017003526.1:c.2086C>T	XP_016859015.1:p.Gln696Ter
XM_017003527.1:c.1417C>T	XP_016859016.1:p.Gln473Ter
XR_001738657.1:n.2363C>T