Canonical Allele Identifier: CA290613
Gene: DLD HGNC NCBI

Linked Data

ClinVar Variation Id: 137101
dbSNP Id: rs34453495

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107919057A>C , CM000669.2:g.107919057A>C GRCh38
NC_000007.13:g.107559502A>C , CM000669.1:g.107559502A>C GRCh37
NC_000007.12:g.107346738A>C NCBI36
NG_008045.1:g.32917A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000205402.10:c.1422A>C MANE Select ENSP00000205402.3:p.Gly474=
ENST00000205402.9:c.1422A>C ENSP00000205402.3:p.Gly474=
ENST00000415325.5:c.*1096A>C ENSP00000402593.1:n.*1096A>C
ENST00000417551.5:c.1422A>C ENSP00000390667.1:p.Gly474=
ENST00000437604.6:c.1278A>C ENSP00000387542.2:p.Gly426=
ENST00000440410.5:c.1353A>C ENSP00000417016.1:p.Gly451=
NM_000108.4:c.1422A>C NP_000099.2:p.Gly474=
NM_001289750.1:c.1125A>C NP_001276679.1:p.Gly375=
NM_001289751.1:c.1353A>C NP_001276680.1:p.Gly451=
NM_001289752.1:c.1278A>C NP_001276681.1:p.Gly426=
NM_000108.5:c.1422A>C MANE Select NP_000099.2:p.Gly474=