Canonical Allele Identifier: CA4434626

Gene: DLD

Linked Data

• ClinVar Variation Id: 2289175
• ClinVar RCV Id: RCV002848882
• dbSNP Id: rs776400068
• ExAC: 7:107557759 C / T
• gnomAD v2: 7-107557759-C-T
• gnomAD v4: 7-107917314-C-T
• MyVariant Identifiers: chr7:g.107557759C>T (hg19) ; chr7:g.107917314C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107917314C>T , CM000669.2:g.107917314C>T	GRCh38
NC_000007.13:g.107557759C>T , CM000669.1:g.107557759C>T	GRCh37
NC_000007.12:g.107344995C>T	NCBI36
NG_008045.1:g.31174C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000205402.10:c.1088C>T MANE Select	ENSP00000205402.3:p.Ala363Val
ENST00000205402.9:c.1088C>T	ENSP00000205402.3:p.Ala363Val
ENST00000415325.5:c.*762C>T	ENSP00000402593.1:n.*762C>T
ENST00000417551.5:c.1088C>T	ENSP00000390667.1:p.Ala363Val
ENST00000437604.6:c.944C>T	ENSP00000387542.2:p.Ala315Val
ENST00000440410.5:c.1019C>T	ENSP00000417016.1:p.Ala340Val
NM_000108.4:c.1088C>T	NP_000099.2:p.Ala363Val
NM_001289750.1:c.791C>T	NP_001276679.1:p.Ala264Val
NM_001289751.1:c.1019C>T	NP_001276680.1:p.Ala340Val
NM_001289752.1:c.944C>T	NP_001276681.1:p.Ala315Val
NM_000108.5:c.1088C>T MANE Select	NP_000099.2:p.Ala363Val