Canonical Allele Identifier: CA368857894

Gene: DLD

Linked Data

• gnomAD v4: 7-107916946-T-A
• MyVariant Identifiers: chr7:g.107557391T>A (hg19) ; chr7:g.107916946T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107916946T>A , CM000669.2:g.107916946T>A	GRCh38
NC_000007.13:g.107557391T>A , CM000669.1:g.107557391T>A	GRCh37
NC_000007.12:g.107344627T>A	NCBI36
NG_008045.1:g.30806T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000205402.10:c.1028T>A MANE Select	ENSP00000205402.3:p.Phe343Tyr
ENST00000205402.9:c.1028T>A	ENSP00000205402.3:p.Phe343Tyr
ENST00000415325.5:c.*702T>A	ENSP00000402593.1:n.*702T>A
ENST00000417551.5:c.1028T>A	ENSP00000390667.1:p.Phe343Tyr
ENST00000437604.6:c.884T>A	ENSP00000387542.2:p.Phe295Tyr
ENST00000440410.5:c.959T>A	ENSP00000417016.1:p.Phe320Tyr
NM_000108.4:c.1028T>A	NP_000099.2:p.Phe343Tyr
NM_001289750.1:c.731T>A	NP_001276679.1:p.Phe244Tyr
NM_001289751.1:c.959T>A	NP_001276680.1:p.Phe320Tyr
NM_001289752.1:c.884T>A	NP_001276681.1:p.Phe295Tyr
NM_000108.5:c.1028T>A MANE Select	NP_000099.2:p.Phe343Tyr