Allele Registry

Canonical Allele Identifier: CA321762670

Gene: DNMT3L HGNC NCBI
DNMT3L-AS1 HGNC NCBI

Linked Data - Expert Curation

COSMIC:

COSM3758928 (not active)

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr21:g.44250887T>C

Linked Data - NCBI & NCI

dbSNP:

7354779

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44250887T>C , CM000683.2:g.44250887T>C	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000628202.3:c.832A>G (DNMT3L) MANE Select	ENSP00000486001.1:p.Arg278Gly
ENST00000270172.7:c.832A>G (DNMT3L)	ENSP00000270172.3:p.Arg278Gly
ENST00000431166.1:c.787A>G (DNMT3L)	ENSP00000400242.1:p.Arg263Gly
ENST00000436357.5:c.216A>G (DNMT3L)
ENST00000628202.2:c.832A>G (DNMT3L)	ENSP00000486001.1:p.Arg278Gly
NM_013369.3:c.832A>G (DNMT3L)	NP_037501.2:p.Arg278Gly
NM_175867.2:c.832A>G (DNMT3L)	NP_787063.1:p.Arg278Gly
XM_011529536.1:c.832A>G (DNMT3L)	XP_011527838.1:p.Arg278Gly
XR_937792.1:n.75T>C (DNMT3L-AS1)
NR_135514.1:n.75T>C (DNMT3L-AS1)
NM_013369.4:c.832A>G (DNMT3L)	NP_037501.2:p.Arg278Gly
NM_175867.3:c.832A>G (DNMT3L) MANE Select	NP_787063.1:p.Arg278Gly

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