Canonical Allele Identifier: CA273504
Gene: DES HGNC NCBI

Linked Data

ClinVar Variation Id: 177872
dbSNP Id: rs150974575

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219423817C>T , CM000664.2:g.219423817C>T GRCh38
NC_000002.11:g.220288539C>T , CM000664.1:g.220288539C>T GRCh37
NC_000002.10:g.219996783C>T NCBI36
NG_008043.1:g.10441C>T , LRG_380:g.10441C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000477226.6:n.759C>T
ENST00000683013.1:n.673C>T
ENST00000373960.4:c.1285C>T MANE Select ENSP00000363071.3:p.Arg429Ter
ENST00000373960.3:c.1285C>T ENSP00000363071.3:p.Arg429Ter
ENST00000477226.5:n.757C>T
ENST00000492726.1:n.680C>T
NM_001927.3:c.1285C>T , LRG_380t1:c.1285C>T NP_001918.3:p.Arg429Ter
NM_001927.4:c.1285C>T MANE Select NP_001918.3:p.Arg429Ter
NM_001382708.1:c.1282C>T NP_001369637.1:p.Arg428Ter
NM_001382709.1:c.853C>T NP_001369638.1:p.Arg285Ter
NM_001382710.1:c.1216C>T NP_001369639.1:p.Arg406Ter
NM_001382711.1:c.1264C>T NP_001369640.1:p.Arg422Ter
NM_001382712.1:c.1285C>T NP_001369641.1:p.Arg429Ter
NM_001382713.1:c.1015C>T NP_001369642.1:p.Arg339Ter