Canonical Allele Identifier: CA457109801
Gene: DLD HGNC NCBI

Linked Data

dbSNP Id: rs2116277880
MyVariant Identifiers: chr7:g.107559491T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107919046T>C , CM000669.2:g.107919046T>C GRCh38
NC_000007.13:g.107559491T>C , CM000669.1:g.107559491T>C GRCh37
NC_000007.12:g.107346727T>C NCBI36
NG_008045.1:g.32906T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000205402.10:c.1411T>C MANE Select ENSP00000205402.3:p.Leu471=
ENST00000205402.9:c.1411T>C ENSP00000205402.3:p.Leu471=
ENST00000415325.5:c.*1085T>C ENSP00000402593.1:n.*1085T>C
ENST00000417551.5:c.1411T>C ENSP00000390667.1:p.Leu471=
ENST00000437604.6:c.1267T>C ENSP00000387542.2:p.Leu423=
ENST00000440410.5:c.1342T>C ENSP00000417016.1:p.Leu448=
NM_000108.4:c.1411T>C NP_000099.2:p.Leu471=
NM_001289750.1:c.1114T>C NP_001276679.1:p.Leu372=
NM_001289751.1:c.1342T>C NP_001276680.1:p.Leu448=
NM_001289752.1:c.1267T>C NP_001276681.1:p.Leu423=
NM_000108.5:c.1411T>C MANE Select NP_000099.2:p.Leu471=