Canonical Allele Identifier: CA257642
Gene: DES HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 16821
ClinVar RCV Id: RCV000018315
dbSNP Id: rs121913000

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219421394G>C , CM000664.2:g.219421394G>C GRCh38
NC_000002.11:g.220286116G>C , CM000664.1:g.220286116G>C GRCh37
NC_000002.10:g.219994360G>C NCBI36
NG_008043.1:g.8018G>C , LRG_380:g.8018G>C

Transcript Alleles

HGVS Amino-acid change
NM_001927.3:c.1078G>C , LRG_380t1:c.1078G>C NP_001918.3:p.Ala360Pro
ENST00000373960.3:c.1078G>C ENSP00000363071.3:p.Ala360Pro
ENST00000477226.5:n.550G>C
ENST00000492726.1:n.473G>C