Canonical Allele Identifier: CA346069851

Gene: DNMT3A

Linked Data

• gnomAD v4: 2-25240355-T-A
• MyVariant Identifiers: chr2:g.25463224T>A (hg19) ; chr2:g.25240355T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240355T>A , CM000664.2:g.25240355T>A	GRCh38
NC_000002.11:g.25463224T>A , CM000664.1:g.25463224T>A	GRCh37
NC_000002.10:g.25316728T>A	NCBI36
NG_029465.2:g.107236A>T , LRG_459:g.107236A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.588A>T
ENST00000683393.1:c.1415A>T	ENSP00000508654.1:n.1415A>T
ENST00000683760.1:c.1600A>T	ENSP00000507765.1:p.Asn534Tyr
ENST00000321117.10:c.2269A>T MANE Select	ENSP00000324375.5:p.Asn757Tyr
ENST00000264709.7:c.2269A>T	ENSP00000264709.3:p.Asn757Tyr
ENST00000321117.9:c.2269A>T	ENSP00000324375.5:p.Asn757Tyr
ENST00000380746.8:c.1702A>T	ENSP00000370122.4:p.Asn568Tyr
ENST00000380756.7:c.2269A>T	ENSP00000370132.3:p.Asn757Tyr
ENST00000402667.1:c.1600A>T	ENSP00000384237.1:p.Asn534Tyr
ENST00000461228.1:n.488A>T
ENST00000466601.5:n.641A>T
ENST00000474887.5:n.588A>T
ENST00000482935.5:n.269A>T
ENST00000491288.5:n.310+285A>T
NM_022552.4:c.2269A>T , LRG_459t1:c.2269A>T	NP_072046.2:p.Asn757Tyr
NM_153759.3:c.1702A>T , LRG_459t2:c.1702A>T	NP_715640.2:p.Asn568Tyr
NM_175629.2:c.2269A>T , LRG_459t4:c.2269A>T	NP_783328.1:p.Asn757Tyr
XM_005264175.3:c.2269A>T	XP_005264232.1:p.Asn757Tyr
XM_005264177.3:c.1600A>T	XP_005264234.1:p.Asn534Tyr
XM_006711957.2:c.2269A>T	XP_006712020.1:p.Asn757Tyr
XM_006711958.2:c.1825A>T	XP_006712021.1:p.Asn609Tyr
XM_011532662.1:c.2122A>T	XP_011530964.1:p.Asn708Tyr
XM_011532663.1:c.2104A>T	XP_011530965.1:p.Asn702Tyr
XM_011532664.1:c.2269A>T	XP_011530966.1:p.Asn757Tyr
XM_011532665.1:c.1813A>T	XP_011530967.1:p.Asn605Tyr
XM_011532666.1:c.1741A>T	XP_011530968.1:p.Asn581Tyr
XM_011532667.1:c.1600A>T	XP_011530969.1:p.Asn534Tyr
XM_011532668.1:c.2269A>T	XP_011530970.1:p.Asn757Tyr
NM_001320893.1:c.1813A>T	NP_001307822.1:p.Asn605Tyr
NR_135490.1:n.2607A>T
XM_005264175.5:c.2269A>T	XP_005264232.1:p.Asn757Tyr
XM_005264177.4:c.1600A>T	XP_005264234.1:p.Asn534Tyr
XM_011532662.2:c.2122A>T	XP_011530964.1:p.Asn708Tyr
XM_011532663.2:c.2104A>T	XP_011530965.1:p.Asn702Tyr
XM_011532664.2:c.2269A>T	XP_011530966.1:p.Asn757Tyr
XM_011532666.2:c.1741A>T	XP_011530968.1:p.Asn581Tyr
XM_011532667.3:c.1600A>T	XP_011530969.1:p.Asn534Tyr
XM_017003526.1:c.2269A>T	XP_016859015.1:p.Asn757Tyr
XM_017003527.1:c.1600A>T	XP_016859016.1:p.Asn534Tyr
XR_001738657.1:n.2546A>T
NM_001375819.1:c.1600A>T	NP_001362748.1:p.Asn534Tyr
NR_135490.2:n.2500A>T
NM_022552.5:c.2269A>T MANE Select	NP_072046.2:p.Asn757Tyr