Canonical Allele Identifier: CA368854704
Community Standard Title: NM_000108.5(DLD):c.140T>G (p.Ile47Arg)
Gene: DLD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107901759T>G , CM000669.2:g.107901759T>G GRCh38
NC_000007.13:g.107542204T>G , CM000669.1:g.107542204T>G GRCh37
NC_000007.12:g.107329440T>G NCBI36
NG_008045.1:g.15619T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000108.5:c.140T>G MANE Select NP_000099.2:p.Ile47Arg
ENST00000205402.10:c.140T>G MANE Select ENSP00000205402.3:p.Ile47Arg
NM_000108.4:c.140T>G NP_000099.2:p.Ile47Arg
NM_001289750.1:c.-30-1719T>G NP_001276679.1:n.-30-1719T>G
NM_001289751.1:c.140T>G NP_001276680.1:p.Ile47Arg
NM_001289752.1:c.140T>G NP_001276681.1:p.Ile47Arg
ENST00000205402.9:c.140T>G ENSP00000205402.3:p.Ile47Arg
ENST00000415325.5:c.119-1719T>G ENSP00000402593.1:n.119-1719T>G
ENST00000417551.5:c.140T>G ENSP00000390667.1:p.Ile47Arg
ENST00000437604.6:c.140T>G ENSP00000387542.2:p.Ile47Arg
ENST00000440410.5:c.140T>G ENSP00000417016.1:p.Ile47Arg
ENST00000450038.5:c.140T>G ENSP00000409590.1:p.Ile47Arg
ENST00000451081.5:c.140T>G ENSP00000388077.1:p.Ile47Arg
ENST00000453354.5:n.205T>G
ENST00000460577.5:n.174T>G
ENST00000494441.1:n.285T>G
ENST00000639772.1:c.140T>G ENSP00000492159.1:p.Ile47Arg