Canonical Allele Identifier: CA217038
Gene: DES HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 66400
dbSNP Id: rs267607485

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219425720A>C , CM000664.2:g.219425720A>C GRCh38
NC_000002.11:g.220290442A>C , CM000664.1:g.220290442A>C GRCh37
NC_000002.10:g.219998686A>C NCBI36
NG_008043.1:g.12344A>C , LRG_380:g.12344A>C

Transcript Alleles

HGVS Amino-acid change
NM_001927.3:c.1346A>C , LRG_380t1:c.1346A>C NP_001918.3:p.Lys449Thr
ENST00000373960.3:c.1346A>C ENSP00000363071.3:p.Lys449Thr
ENST00000483395.1:n.201A>C