Canonical Allele Identifier: CA65981288
Gene: DES HGNC NCBI

Linked Data

ClinVar Variation Id: 1961713
ClinVar RCV Id: RCV002734915
dbSNP Id: rs961874998

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219418980G>A , CM000664.2:g.219418980G>A GRCh38
NC_000002.11:g.220283702G>A , CM000664.1:g.220283702G>A GRCh37
NC_000002.10:g.219991946G>A NCBI36
NG_008043.1:g.5604G>A , LRG_380:g.5604G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373960.4:c.518G>A MANE Select ENSP00000363071.3:p.Arg173His
ENST00000373960.3:c.518G>A ENSP00000363071.3:p.Arg173His
NM_001927.3:c.518G>A , LRG_380t1:c.518G>A NP_001918.3:p.Arg173His
NM_001927.4:c.518G>A MANE Select NP_001918.3:p.Arg173His
NM_001382708.1:c.518G>A NP_001369637.1:p.Arg173His
NM_001382709.1:c.518G>A NP_001369638.1:p.Arg173His
NM_001382710.1:c.518G>A NP_001369639.1:p.Arg173His
NM_001382711.1:c.518G>A NP_001369640.1:p.Arg173His
NM_001382712.1:c.518G>A NP_001369641.1:p.Arg173His
NM_001382713.1:c.495+23G>A NP_001369642.1:n.495+23G>A