Canonical Allele Identifier: CA350682181
Gene: DES HGNC NCBI

Linked Data

ClinVar Variation Id: 1339289
dbSNP Id: rs1196125127

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219418490C>T , CM000664.2:g.219418490C>T GRCh38
NC_000002.11:g.220283212C>T , CM000664.1:g.220283212C>T GRCh37
NC_000002.10:g.219991456C>T NCBI36
NG_008043.1:g.5114C>T , LRG_380:g.5114C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373960.4:c.28C>T MANE Select ENSP00000363071.3:p.Arg10Cys
ENST00000373960.3:c.28C>T ENSP00000363071.3:p.Arg10Cys
NM_001927.3:c.28C>T , LRG_380t1:c.28C>T NP_001918.3:p.Arg10Cys
NM_001927.4:c.28C>T MANE Select NP_001918.3:p.Arg10Cys
NM_001382708.1:c.28C>T NP_001369637.1:p.Arg10Cys
NM_001382709.1:c.28C>T NP_001369638.1:p.Arg10Cys
NM_001382710.1:c.28C>T NP_001369639.1:p.Arg10Cys
NM_001382711.1:c.28C>T NP_001369640.1:p.Arg10Cys
NM_001382712.1:c.28C>T NP_001369641.1:p.Arg10Cys
NM_001382713.1:c.28C>T NP_001369642.1:p.Arg10Cys