Canonical Allele Identifier: CA346069681

Gene: DNMT3A

Linked Data

• dbSNP Id: rs1181120114
• gnomAD v3: 2-25240321-T-A
• gnomAD v4: 2-25240321-T-A
• MyVariant Identifiers: chr2:g.25463190T>A (hg19) ; chr2:g.25240321T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240321T>A , CM000664.2:g.25240321T>A	GRCh38
NC_000002.11:g.25463190T>A , CM000664.1:g.25463190T>A	GRCh37
NC_000002.10:g.25316694T>A	NCBI36
NG_029465.2:g.107270A>T , LRG_459:g.107270A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.622A>T
ENST00000683393.1:c.1449A>T	ENSP00000508654.1:n.1449A>T
ENST00000683760.1:c.1634A>T	ENSP00000507765.1:p.Asp545Val
ENST00000321117.10:c.2303A>T MANE Select	ENSP00000324375.5:p.Asp768Val
ENST00000264709.7:c.2303A>T	ENSP00000264709.3:p.Asp768Val
ENST00000321117.9:c.2303A>T	ENSP00000324375.5:p.Asp768Val
ENST00000380746.8:c.1736A>T	ENSP00000370122.4:p.Asp579Val
ENST00000380756.7:c.2303A>T	ENSP00000370132.3:p.Asp768Val
ENST00000402667.1:c.1634A>T	ENSP00000384237.1:p.Asp545Val
ENST00000461228.1:n.522A>T
ENST00000466601.5:n.675A>T
ENST00000474887.5:n.622A>T
ENST00000482935.5:n.303A>T
ENST00000491288.5:n.310+319A>T
NM_022552.4:c.2303A>T , LRG_459t1:c.2303A>T	NP_072046.2:p.Asp768Val
NM_153759.3:c.1736A>T , LRG_459t2:c.1736A>T	NP_715640.2:p.Asp579Val
NM_175629.2:c.2303A>T , LRG_459t4:c.2303A>T	NP_783328.1:p.Asp768Val
XM_005264175.3:c.2303A>T	XP_005264232.1:p.Asp768Val
XM_005264177.3:c.1634A>T	XP_005264234.1:p.Asp545Val
XM_006711957.2:c.2303A>T	XP_006712020.1:p.Asp768Val
XM_006711958.2:c.1859A>T	XP_006712021.1:p.Asp620Val
XM_011532662.1:c.2156A>T	XP_011530964.1:p.Asp719Val
XM_011532663.1:c.2138A>T	XP_011530965.1:p.Asp713Val
XM_011532664.1:c.2303A>T	XP_011530966.1:p.Asp768Val
XM_011532665.1:c.1847A>T	XP_011530967.1:p.Asp616Val
XM_011532666.1:c.1775A>T	XP_011530968.1:p.Asp592Val
XM_011532667.1:c.1634A>T	XP_011530969.1:p.Asp545Val
XM_011532668.1:c.2303A>T	XP_011530970.1:p.Asp768Val
NM_001320893.1:c.1847A>T	NP_001307822.1:p.Asp616Val
NR_135490.1:n.2641A>T
XM_005264175.5:c.2303A>T	XP_005264232.1:p.Asp768Val
XM_005264177.4:c.1634A>T	XP_005264234.1:p.Asp545Val
XM_011532662.2:c.2156A>T	XP_011530964.1:p.Asp719Val
XM_011532663.2:c.2138A>T	XP_011530965.1:p.Asp713Val
XM_011532664.2:c.2303A>T	XP_011530966.1:p.Asp768Val
XM_011532666.2:c.1775A>T	XP_011530968.1:p.Asp592Val
XM_011532667.3:c.1634A>T	XP_011530969.1:p.Asp545Val
XM_017003526.1:c.2303A>T	XP_016859015.1:p.Asp768Val
XM_017003527.1:c.1634A>T	XP_016859016.1:p.Asp545Val
XR_001738657.1:n.2580A>T
NM_001375819.1:c.1634A>T	NP_001362748.1:p.Asp545Val
NR_135490.2:n.2534A>T
NM_022552.5:c.2303A>T MANE Select	NP_072046.2:p.Asp768Val