Canonical Allele Identifier: CA217025
Gene: DES HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 16830
dbSNP Id: rs121913004

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219421482A>C , CM000664.2:g.219421482A>C GRCh38
NC_000002.11:g.220286204A>C , CM000664.1:g.220286204A>C GRCh37
NC_000002.10:g.219994448A>C NCBI36
NG_008043.1:g.8106A>C , LRG_380:g.8106A>C

Transcript Alleles

HGVS Amino-acid change
NM_001927.3:c.1166A>C , LRG_380t1:c.1166A>C NP_001918.3:p.Gln389Pro
ENST00000373960.3:c.1166A>C ENSP00000363071.3:p.Gln389Pro
ENST00000477226.5:n.638A>C
ENST00000492726.1:n.561A>C