Canonical Allele Identifier: CA217036
Gene: DES HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 16834
dbSNP Id: rs121913005

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219425699C>T , CM000664.2:g.219425699C>T GRCh38
NC_000002.11:g.220290421C>T , CM000664.1:g.220290421C>T GRCh37
NC_000002.10:g.219998665C>T NCBI36
NG_008043.1:g.12323C>T , LRG_380:g.12323C>T

Transcript Alleles

HGVS Amino-acid change
NM_001927.3:c.1325C>T , LRG_380t1:c.1325C>T NP_001918.3:p.Thr442Ile
ENST00000373960.3:c.1325C>T ENSP00000363071.3:p.Thr442Ile
ENST00000483395.1:n.180C>T