Canonical Allele Identifier: CA10606321
Gene: DES HGNC NCBI

Linked Data

ClinVar Variation Id: 289081
dbSNP Id: rs886044078

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219420319C>T , CM000664.2:g.219420319C>T GRCh38
NC_000002.11:g.220285041C>T , CM000664.1:g.220285041C>T GRCh37
NC_000002.10:g.219993285C>T NCBI36
NG_008043.1:g.6943C>T , LRG_380:g.6943C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000477226.6:n.182C>T
ENST00000683013.1:n.96C>T
ENST00000373960.4:c.708C>T MANE Select ENSP00000363071.3:p.Ile236=
ENST00000373960.3:c.708C>T ENSP00000363071.3:p.Ile236=
ENST00000477226.5:n.180C>T
ENST00000492726.1:n.103C>T
NM_001927.3:c.708C>T , LRG_380t1:c.708C>T NP_001918.3:p.Ile236=
NM_001927.4:c.708C>T MANE Select NP_001918.3:p.Ile236=
NM_001382708.1:c.705C>T NP_001369637.1:p.Ile235=
NM_001382709.1:c.708C>T NP_001369638.1:p.Ile236=
NM_001382710.1:c.708C>T NP_001369639.1:p.Ile236=
NM_001382711.1:c.708C>T NP_001369640.1:p.Ile236=
NM_001382712.1:c.708C>T NP_001369641.1:p.Ile236=
NM_001382713.1:c.496-206C>T NP_001369642.1:n.496-206C>T