Canonical Allele Identifier: CA350694085
Gene: DES HGNC NCBI

Linked Data

ClinVar Variation Id: 2178066
ClinVar RCV Id: RCV002588503

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219421401G>A , CM000664.2:g.219421401G>A GRCh38
NC_000002.11:g.220286123G>A , CM000664.1:g.220286123G>A GRCh37
NC_000002.10:g.219994367G>A NCBI36
NG_008043.1:g.8025G>A , LRG_380:g.8025G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000477226.6:n.559G>A
ENST00000683013.1:n.473G>A
ENST00000373960.4:c.1085G>A MANE Select ENSP00000363071.3:p.Gly362Asp
ENST00000373960.3:c.1085G>A ENSP00000363071.3:p.Gly362Asp
ENST00000477226.5:n.557G>A
ENST00000492726.1:n.480G>A
NM_001927.3:c.1085G>A , LRG_380t1:c.1085G>A NP_001918.3:p.Gly362Asp
NM_001927.4:c.1085G>A MANE Select NP_001918.3:p.Gly362Asp
NM_001382708.1:c.1082G>A NP_001369637.1:p.Gly361Asp
NM_001382709.1:c.736-83G>A NP_001369638.1:n.736-83G>A
NM_001382710.1:c.1024-8G>A NP_001369639.1:n.1024-8G>A
NM_001382711.1:c.1064G>A NP_001369640.1:p.Gly355Asp
NM_001382712.1:c.1085G>A NP_001369641.1:p.Gly362Asp
NM_001382713.1:c.815G>A NP_001369642.1:p.Gly272Asp