Canonical Allele Identifier: CA217084
Gene: DES HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 66419
dbSNP Id: rs267607483

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219420349A>G , CM000664.2:g.219420349A>G GRCh38
NC_000002.11:g.220285071A>G , CM000664.1:g.220285071A>G GRCh37
NC_000002.10:g.219993315A>G NCBI36
NG_008043.1:g.6973A>G , LRG_380:g.6973A>G

Transcript Alleles

HGVS Amino-acid change
NM_001927.3:c.735+3A>G , LRG_380t1:c.735+3A>G NP_001918.3:p.=
ENST00000373960.3:c.735+3A>G ENSP00000363071.3:p.=
ENST00000477226.5:n.207+3A>G
ENST00000492726.1:n.130+3A>G