Canonical Allele Identifier: CA43693578
Gene: DNMT3A HGNC NCBI

Linked Data

dbSNP Id: rs150837902
gnomAD v2: 2-25452244-C-T
gnomAD v3: 2-25229375-C-T
gnomAD v4: 2-25229375-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25229375C>T , CM000664.2:g.25229375C>T GRCh38
NC_000002.11:g.25452244C>T , CM000664.1:g.25452244C>T GRCh37
NC_000002.10:g.25305748C>T NCBI36
NG_029465.2:g.118216G>A , LRG_459:g.118216G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000321117.10:c.*4904G>A MANE Select ENSP00000324375.5:n.*4904G>A
ENST00000264709.7:c.*4904G>A ENSP00000264709.3:n.*4904G>A
NR_135490.2:n.8073G>A
NM_022552.5:c.*4904G>A MANE Select NP_072046.2:n.*4904G>A