Canonical Allele Identifier: CA457109163

Gene: DLD

Linked Data

• dbSNP Id: rs376499673
• gnomAD v2: 7-107557335-A-G
• gnomAD v4: 7-107916890-A-G
• MyVariant Identifiers: chr7:g.107557335A>G (hg19) ; chr7:g.107916890A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107916890A>G , CM000669.2:g.107916890A>G	GRCh38
NC_000007.13:g.107557335A>G , CM000669.1:g.107557335A>G	GRCh37
NC_000007.12:g.107344571A>G	NCBI36
NG_008045.1:g.30750A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000205402.10:c.972A>G MANE Select	ENSP00000205402.3:p.Leu324=
ENST00000205402.9:c.972A>G	ENSP00000205402.3:p.Leu324=
ENST00000415325.5:c.*646A>G	ENSP00000402593.1:n.*646A>G
ENST00000417551.5:c.972A>G	ENSP00000390667.1:p.Leu324=
ENST00000437604.6:c.828A>G	ENSP00000387542.2:p.Leu276=
ENST00000440410.5:c.903A>G	ENSP00000417016.1:p.Leu301=
NM_000108.4:c.972A>G	NP_000099.2:p.Leu324=
NM_001289750.1:c.675A>G	NP_001276679.1:p.Leu225=
NM_001289751.1:c.903A>G	NP_001276680.1:p.Leu301=
NM_001289752.1:c.828A>G	NP_001276681.1:p.Leu276=
NM_000108.5:c.972A>G MANE Select	NP_000099.2:p.Leu324=