Canonical Allele Identifier: CA346071617

Gene: DNMT3A

Linked Data

• gnomAD v4: 2-25243976-G-T
• MyVariant Identifiers: chr2:g.25466845G>T (hg19) ; chr2:g.25243976G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25243976G>T , CM000664.2:g.25243976G>T	GRCh38
NC_000002.11:g.25466845G>T , CM000664.1:g.25466845G>T	GRCh37
NC_000002.10:g.25320349G>T	NCBI36
NG_029465.2:g.103615C>A , LRG_459:g.103615C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.177C>A
ENST00000683393.1:c.1004C>A	ENSP00000508654.1:n.1004C>A
ENST00000683760.1:c.1189C>A	ENSP00000507765.1:p.Pro397Thr
ENST00000321117.10:c.1858C>A MANE Select	ENSP00000324375.5:p.Pro620Thr
ENST00000264709.7:c.1858C>A	ENSP00000264709.3:p.Pro620Thr
ENST00000321117.9:c.1858C>A	ENSP00000324375.5:p.Pro620Thr
ENST00000380746.8:c.1291C>A	ENSP00000370122.4:p.Pro431Thr
ENST00000380756.7:c.1858C>A	ENSP00000370132.3:p.Pro620Thr
ENST00000402667.1:c.1189C>A	ENSP00000384237.1:p.Pro397Thr
ENST00000461228.1:n.7C>A
ENST00000474887.5:n.177C>A
ENST00000482935.5:n.4C>A
NM_022552.4:c.1858C>A , LRG_459t1:c.1858C>A	NP_072046.2:p.Pro620Thr
NM_153759.3:c.1291C>A , LRG_459t2:c.1291C>A	NP_715640.2:p.Pro431Thr
NM_175629.2:c.1858C>A , LRG_459t4:c.1858C>A	NP_783328.1:p.Pro620Thr
XM_005264175.3:c.1858C>A	XP_005264232.1:p.Pro620Thr
XM_005264177.3:c.1189C>A	XP_005264234.1:p.Pro397Thr
XM_006711957.2:c.1858C>A	XP_006712020.1:p.Pro620Thr
XM_006711958.2:c.1414C>A	XP_006712021.1:p.Pro472Thr
XM_011532662.1:c.1711C>A	XP_011530964.1:p.Pro571Thr
XM_011532663.1:c.1693C>A	XP_011530965.1:p.Pro565Thr
XM_011532664.1:c.1858C>A	XP_011530966.1:p.Pro620Thr
XM_011532665.1:c.1402C>A	XP_011530967.1:p.Pro468Thr
XM_011532666.1:c.1330C>A	XP_011530968.1:p.Pro444Thr
XM_011532667.1:c.1189C>A	XP_011530969.1:p.Pro397Thr
XM_011532668.1:c.1858C>A	XP_011530970.1:p.Pro620Thr
NM_001320893.1:c.1402C>A	NP_001307822.1:p.Pro468Thr
NR_135490.1:n.2196C>A
XM_005264175.5:c.1858C>A	XP_005264232.1:p.Pro620Thr
XM_005264177.4:c.1189C>A	XP_005264234.1:p.Pro397Thr
XM_011532662.2:c.1711C>A	XP_011530964.1:p.Pro571Thr
XM_011532663.2:c.1693C>A	XP_011530965.1:p.Pro565Thr
XM_011532664.2:c.1858C>A	XP_011530966.1:p.Pro620Thr
XM_011532666.2:c.1330C>A	XP_011530968.1:p.Pro444Thr
XM_011532667.3:c.1189C>A	XP_011530969.1:p.Pro397Thr
XM_017003526.1:c.1858C>A	XP_016859015.1:p.Pro620Thr
XM_017003527.1:c.1189C>A	XP_016859016.1:p.Pro397Thr
XR_001738657.1:n.2135C>A
NM_001375819.1:c.1189C>A	NP_001362748.1:p.Pro397Thr
NR_135490.2:n.2089C>A
NM_022552.5:c.1858C>A MANE Select	NP_072046.2:p.Pro620Thr