Canonical Allele Identifier: CA4434640

Gene: DLD

Linked Data

• dbSNP Id: rs780250126
• ExAC: 7:107557859 C / A
• gnomAD v4: 7-107917414-C-A
• MyVariant Identifiers: chr7:g.107557859C>A (hg19) ; chr7:g.107917414C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107917414C>A , CM000669.2:g.107917414C>A	GRCh38
NC_000007.13:g.107557859C>A , CM000669.1:g.107557859C>A	GRCh37
NC_000007.12:g.107345095C>A	NCBI36
NG_008045.1:g.31274C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000205402.10:c.1188C>A MANE Select	ENSP00000205402.3:p.His396Gln
ENST00000205402.9:c.1188C>A	ENSP00000205402.3:p.His396Gln
ENST00000415325.5:c.*862C>A	ENSP00000402593.1:n.*862C>A
ENST00000417551.5:c.1188C>A	ENSP00000390667.1:p.His396Gln
ENST00000437604.6:c.1044C>A	ENSP00000387542.2:p.His348Gln
ENST00000440410.5:c.1119C>A	ENSP00000417016.1:p.His373Gln
NM_000108.4:c.1188C>A	NP_000099.2:p.His396Gln
NM_001289750.1:c.891C>A	NP_001276679.1:p.His297Gln
NM_001289751.1:c.1119C>A	NP_001276680.1:p.His373Gln
NM_001289752.1:c.1044C>A	NP_001276681.1:p.His348Gln
NM_000108.5:c.1188C>A MANE Select	NP_000099.2:p.His396Gln