Canonical Allele Identifier: CA368857428

Gene: DLD

Linked Data

• gnomAD v4: 7-107915696-C-A
• MyVariant Identifiers: chr7:g.107556141C>A (hg19) ; chr7:g.107915696C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107915696C>A , CM000669.2:g.107915696C>A	GRCh38
NC_000007.13:g.107556141C>A , CM000669.1:g.107556141C>A	GRCh37
NC_000007.12:g.107343377C>A	NCBI36
NG_008045.1:g.29556C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000205402.10:c.875C>A MANE Select	ENSP00000205402.3:p.Ser292Tyr
ENST00000205402.9:c.875C>A	ENSP00000205402.3:p.Ser292Tyr
ENST00000415325.5:c.*549C>A	ENSP00000402593.1:n.*549C>A
ENST00000417551.5:c.875C>A	ENSP00000390667.1:p.Ser292Tyr
ENST00000437604.6:c.731C>A	ENSP00000387542.2:p.Ser244Tyr
ENST00000440410.5:c.806C>A	ENSP00000417016.1:p.Ser269Tyr
NM_000108.4:c.875C>A	NP_000099.2:p.Ser292Tyr
NM_001289750.1:c.578C>A	NP_001276679.1:p.Ser193Tyr
NM_001289751.1:c.806C>A	NP_001276680.1:p.Ser269Tyr
NM_001289752.1:c.731C>A	NP_001276681.1:p.Ser244Tyr
NM_000108.5:c.875C>A MANE Select	NP_000099.2:p.Ser292Tyr