Canonical Allele Identifier: CA1555461

Gene: DNMT3A

Linked Data

• dbSNP Id: rs751868166
• ExAC: 2:25457173 A / T
• gnomAD v2: 2-25457173-A-T
• gnomAD v4: 2-25234304-A-T
• MyVariant Identifiers: chr2:g.25457173A>T (hg19) ; chr2:g.25234304A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234304A>T , CM000664.2:g.25234304A>T	GRCh38
NC_000002.11:g.25457173A>T , CM000664.1:g.25457173A>T	GRCh37
NC_000002.10:g.25310677A>T	NCBI36
NG_029465.2:g.113287T>A , LRG_459:g.113287T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.963T>A
ENST00000683393.1:c.1860T>A	ENSP00000508654.1:n.1860T>A
ENST00000683760.1:c.2045T>A	ENSP00000507765.1:p.Leu682Gln
ENST00000321117.10:c.2714T>A MANE Select	ENSP00000324375.5:p.Leu905Gln
ENST00000264709.7:c.2714T>A	ENSP00000264709.3:p.Leu905Gln
ENST00000321117.9:c.2714T>A	ENSP00000324375.5:p.Leu905Gln
ENST00000380746.8:c.2147T>A	ENSP00000370122.4:p.Leu716Gln
ENST00000380756.7:c.*567T>A	ENSP00000370132.3:n.*567T>A
ENST00000402667.1:c.2045T>A	ENSP00000384237.1:p.Leu682Gln
NM_022552.4:c.2714T>A , LRG_459t1:c.2714T>A	NP_072046.2:p.Leu905Gln
NM_153759.3:c.2147T>A , LRG_459t2:c.2147T>A	NP_715640.2:p.Leu716Gln
NM_175629.2:c.2714T>A , LRG_459t4:c.2714T>A	NP_783328.1:p.Leu905Gln
XM_005264175.3:c.2714T>A	XP_005264232.1:p.Leu905Gln
XM_005264177.3:c.2045T>A	XP_005264234.1:p.Leu682Gln
XM_006711958.2:c.2270T>A	XP_006712021.1:p.Leu757Gln
XM_011532662.1:c.2567T>A	XP_011530964.1:p.Leu856Gln
XM_011532663.1:c.2549T>A	XP_011530965.1:p.Leu850Gln
XM_011532665.1:c.2258T>A	XP_011530967.1:p.Leu753Gln
XM_011532666.1:c.2186T>A	XP_011530968.1:p.Leu729Gln
XM_011532667.1:c.2045T>A	XP_011530969.1:p.Leu682Gln
NM_001320893.1:c.2258T>A	NP_001307822.1:p.Leu753Gln
NR_135490.1:n.3251T>A
XM_005264175.5:c.2714T>A	XP_005264232.1:p.Leu905Gln
XM_005264177.4:c.2045T>A	XP_005264234.1:p.Leu682Gln
XM_011532662.2:c.2567T>A	XP_011530964.1:p.Leu856Gln
XM_011532663.2:c.2549T>A	XP_011530965.1:p.Leu850Gln
XM_011532666.2:c.2186T>A	XP_011530968.1:p.Leu729Gln
XM_011532667.3:c.2045T>A	XP_011530969.1:p.Leu682Gln
XM_017003526.1:c.2714T>A	XP_016859015.1:p.Leu905Gln
XM_017003527.1:c.2045T>A	XP_016859016.1:p.Leu682Gln
XR_001738657.1:n.2921T>A
NM_001375819.1:c.2045T>A	NP_001362748.1:p.Leu682Gln
NR_135490.2:n.3144T>A
NM_022552.5:c.2714T>A MANE Select	NP_072046.2:p.Leu905Gln