Canonical Allele Identifier: CA217069
Gene: DES HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 66412
dbSNP Id: rs267607495

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219418497C>T , CM000664.2:g.219418497C>T GRCh38
NC_000002.11:g.220283219C>T , CM000664.1:g.220283219C>T GRCh37
NC_000002.10:g.219991463C>T NCBI36
NG_008043.1:g.5121C>T , LRG_380:g.5121C>T

Transcript Alleles

HGVS Amino-acid change
NM_001927.3:c.35C>T , LRG_380t1:c.35C>T NP_001918.3:p.Ser12Phe
ENST00000373960.3:c.35C>T ENSP00000363071.3:p.Ser12Phe