Canonical Allele Identifier: CA368857214
Gene: DLD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107915638A>C , CM000669.2:g.107915638A>C GRCh38
NC_000007.13:g.107556083A>C , CM000669.1:g.107556083A>C GRCh37
NC_000007.12:g.107343319A>C NCBI36
NG_008045.1:g.29498A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000205402.10:c.817A>C MANE Select ENSP00000205402.3:p.Lys273Gln
ENST00000205402.9:c.817A>C ENSP00000205402.3:p.Lys273Gln
ENST00000415325.5:c.*491A>C ENSP00000402593.1:n.*491A>C
ENST00000417551.5:c.817A>C ENSP00000390667.1:p.Lys273Gln
ENST00000437604.6:c.673A>C ENSP00000387542.2:p.Lys225Gln
ENST00000440410.5:c.748A>C ENSP00000417016.1:p.Lys250Gln
NM_000108.4:c.817A>C NP_000099.2:p.Lys273Gln
NM_001289750.1:c.520A>C NP_001276679.1:p.Lys174Gln
NM_001289751.1:c.748A>C NP_001276680.1:p.Lys250Gln
NM_001289752.1:c.673A>C NP_001276681.1:p.Lys225Gln
NM_000108.5:c.817A>C MANE Select NP_000099.2:p.Lys273Gln