Canonical Allele Identifier: CA43693544
Gene: DNMT3A HGNC NCBI

Linked Data

dbSNP Id: rs555852996
gnomAD v2: 2-25452163-G-A
gnomAD v3: 2-25229294-G-A
gnomAD v4: 2-25229294-G-A
MyVariant Identifiers: chr2:g.25452163G>A (hg19) chr2:g.25229294G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25229294G>A , CM000664.2:g.25229294G>A GRCh38
NC_000002.11:g.25452163G>A , CM000664.1:g.25452163G>A GRCh37
NC_000002.10:g.25305667G>A NCBI36
NG_029465.2:g.118297C>T , LRG_459:g.118297C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000321117.10:c.*4985C>T MANE Select ENSP00000324375.5:n.*4985C>T
ENST00000264709.7:c.*4985C>T ENSP00000264709.3:n.*4985C>T
NR_135490.2:n.8154C>T
NM_022552.5:c.*4985C>T MANE Select NP_072046.2:n.*4985C>T
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