Canonical Allele Identifier: CA368857277
Gene: DLD HGNC NCBI

Linked Data

ClinVar Variation Id: 2151483
ClinVar RCV Id: RCV003061361
dbSNP Id: rs1351453420

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107915652G>T , CM000669.2:g.107915652G>T GRCh38
NC_000007.13:g.107556097G>T , CM000669.1:g.107556097G>T GRCh37
NC_000007.12:g.107343333G>T NCBI36
NG_008045.1:g.29512G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000205402.10:c.831G>T MANE Select ENSP00000205402.3:p.Lys277Asn
ENST00000205402.9:c.831G>T ENSP00000205402.3:p.Lys277Asn
ENST00000415325.5:c.*505G>T ENSP00000402593.1:n.*505G>T
ENST00000417551.5:c.831G>T ENSP00000390667.1:p.Lys277Asn
ENST00000437604.6:c.687G>T ENSP00000387542.2:p.Lys229Asn
ENST00000440410.5:c.762G>T ENSP00000417016.1:p.Lys254Asn
NM_000108.4:c.831G>T NP_000099.2:p.Lys277Asn
NM_001289750.1:c.534G>T NP_001276679.1:p.Lys178Asn
NM_001289751.1:c.762G>T NP_001276680.1:p.Lys254Asn
NM_001289752.1:c.687G>T NP_001276681.1:p.Lys229Asn
NM_000108.5:c.831G>T MANE Select NP_000099.2:p.Lys277Asn