Canonical Allele Identifier: CA368857231

Gene: DLD

Linked Data

• gnomAD v4: 7-107915642-T-C
• MyVariant Identifiers: chr7:g.107556087T>C (hg19) ; chr7:g.107915642T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107915642T>C , CM000669.2:g.107915642T>C	GRCh38
NC_000007.13:g.107556087T>C , CM000669.1:g.107556087T>C	GRCh37
NC_000007.12:g.107343323T>C	NCBI36
NG_008045.1:g.29502T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000205402.10:c.821T>C MANE Select	ENSP00000205402.3:p.Leu274Ser
ENST00000205402.9:c.821T>C	ENSP00000205402.3:p.Leu274Ser
ENST00000415325.5:c.*495T>C	ENSP00000402593.1:n.*495T>C
ENST00000417551.5:c.821T>C	ENSP00000390667.1:p.Leu274Ser
ENST00000437604.6:c.677T>C	ENSP00000387542.2:p.Leu226Ser
ENST00000440410.5:c.752T>C	ENSP00000417016.1:p.Leu251Ser
NM_000108.4:c.821T>C	NP_000099.2:p.Leu274Ser
NM_001289750.1:c.524T>C	NP_001276679.1:p.Leu175Ser
NM_001289751.1:c.752T>C	NP_001276680.1:p.Leu251Ser
NM_001289752.1:c.677T>C	NP_001276681.1:p.Leu226Ser
NM_000108.5:c.821T>C MANE Select	NP_000099.2:p.Leu274Ser