Canonical Allele Identifier: CA257646
Gene: DES HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 16826
dbSNP Id: rs121913003

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219421532C>T , CM000664.2:g.219421532C>T GRCh38
NC_000002.11:g.220286254C>T , CM000664.1:g.220286254C>T GRCh37
NC_000002.10:g.219994498C>T NCBI36
NG_008043.1:g.8156C>T , LRG_380:g.8156C>T

Transcript Alleles

HGVS Amino-acid change
NM_001927.3:c.1216C>T , LRG_380t1:c.1216C>T NP_001918.3:p.Arg406Trp
ENST00000373960.3:c.1216C>T ENSP00000363071.3:p.Arg406Trp
ENST00000477226.5:n.688C>T
ENST00000492726.1:n.611C>T