Canonical Allele Identifier: CA425182227

Gene: DNMT3A

Linked Data

• dbSNP Id: rs1674431008
• gnomAD v4: 2-25244176-A-G
• MyVariant Identifiers: chr2:g.25467045A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25244176A>G , CM000664.2:g.25244176A>G	GRCh38
NC_000002.11:g.25467045A>G , CM000664.1:g.25467045A>G	GRCh37
NC_000002.10:g.25320549A>G	NCBI36
NG_029465.2:g.103415T>C , LRG_459:g.103415T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.149T>C
ENST00000683393.1:c.976T>C	ENSP00000508654.1:n.976T>C
ENST00000683760.1:c.1161T>C	ENSP00000507765.1:p.Ala387=
ENST00000321117.10:c.1830T>C MANE Select	ENSP00000324375.5:p.Ala610=
ENST00000264709.7:c.1830T>C	ENSP00000264709.3:p.Ala610=
ENST00000321117.9:c.1830T>C	ENSP00000324375.5:p.Ala610=
ENST00000380746.8:c.1263T>C	ENSP00000370122.4:p.Ala421=
ENST00000380756.7:c.1830T>C	ENSP00000370132.3:p.Ala610=
ENST00000402667.1:c.1161T>C	ENSP00000384237.1:p.Ala387=
ENST00000474887.5:n.149T>C
NM_022552.4:c.1830T>C , LRG_459t1:c.1830T>C	NP_072046.2:p.Ala610=
NM_153759.3:c.1263T>C , LRG_459t2:c.1263T>C	NP_715640.2:p.Ala421=
NM_175629.2:c.1830T>C , LRG_459t4:c.1830T>C	NP_783328.1:p.Ala610=
XM_005264175.3:c.1830T>C	XP_005264232.1:p.Ala610=
XM_005264177.3:c.1161T>C	XP_005264234.1:p.Ala387=
XM_006711957.2:c.1830T>C	XP_006712020.1:p.Ala610=
XM_006711958.2:c.1386T>C	XP_006712021.1:p.Ala462=
XM_011532662.1:c.1683T>C	XP_011530964.1:p.Ala561=
XM_011532663.1:c.1665T>C	XP_011530965.1:p.Ala555=
XM_011532664.1:c.1830T>C	XP_011530966.1:p.Ala610=
XM_011532665.1:c.1374T>C	XP_011530967.1:p.Ala458=
XM_011532666.1:c.1302T>C	XP_011530968.1:p.Ala434=
XM_011532667.1:c.1161T>C	XP_011530969.1:p.Ala387=
XM_011532668.1:c.1830T>C	XP_011530970.1:p.Ala610=
NM_001320893.1:c.1374T>C	NP_001307822.1:p.Ala458=
NR_135490.1:n.2168T>C
XM_005264175.5:c.1830T>C	XP_005264232.1:p.Ala610=
XM_005264177.4:c.1161T>C	XP_005264234.1:p.Ala387=
XM_011532662.2:c.1683T>C	XP_011530964.1:p.Ala561=
XM_011532663.2:c.1665T>C	XP_011530965.1:p.Ala555=
XM_011532664.2:c.1830T>C	XP_011530966.1:p.Ala610=
XM_011532666.2:c.1302T>C	XP_011530968.1:p.Ala434=
XM_011532667.3:c.1161T>C	XP_011530969.1:p.Ala387=
XM_017003526.1:c.1830T>C	XP_016859015.1:p.Ala610=
XM_017003527.1:c.1161T>C	XP_016859016.1:p.Ala387=
XR_001738657.1:n.2107T>C
NM_001375819.1:c.1161T>C	NP_001362748.1:p.Ala387=
NR_135490.2:n.2061T>C
NM_022552.5:c.1830T>C MANE Select	NP_072046.2:p.Ala610=