Canonical Allele Identifier: CA368857398

Gene: DLD

Linked Data

• dbSNP Id: rs1172076598
• gnomAD v2: 7-107556128-A-C
• gnomAD v4: 7-107915683-A-C
• MyVariant Identifiers: chr7:g.107556128A>C (hg19) ; chr7:g.107915683A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107915683A>C , CM000669.2:g.107915683A>C	GRCh38
NC_000007.13:g.107556128A>C , CM000669.1:g.107556128A>C	GRCh37
NC_000007.12:g.107343364A>C	NCBI36
NG_008045.1:g.29543A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000205402.10:c.862A>C MANE Select	ENSP00000205402.3:p.Lys288Gln
ENST00000205402.9:c.862A>C	ENSP00000205402.3:p.Lys288Gln
ENST00000415325.5:c.*536A>C	ENSP00000402593.1:n.*536A>C
ENST00000417551.5:c.862A>C	ENSP00000390667.1:p.Lys288Gln
ENST00000437604.6:c.718A>C	ENSP00000387542.2:p.Lys240Gln
ENST00000440410.5:c.793A>C	ENSP00000417016.1:p.Lys265Gln
NM_000108.4:c.862A>C	NP_000099.2:p.Lys288Gln
NM_001289750.1:c.565A>C	NP_001276679.1:p.Lys189Gln
NM_001289751.1:c.793A>C	NP_001276680.1:p.Lys265Gln
NM_001289752.1:c.718A>C	NP_001276681.1:p.Lys240Gln
NM_000108.5:c.862A>C MANE Select	NP_000099.2:p.Lys288Gln