Canonical Allele Identifier: CA1329213405
Gene: DES HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219426339C= , CM000664.2:g.219426339C= GRCh38
NC_000002.11:g.220291061C= , CM000664.1:g.220291061C= GRCh37
NC_000002.10:g.219999305C= NCBI36
NG_008043.1:g.12963C= , LRG_380:g.12963C=

Transcript Alleles

HGVS Amino-acid change
ENST00000477226.6:n.1236C=
ENST00000683013.1:n.1150C=
ENST00000373960.4:c.*349C= MANE Select ENSP00000363071.3:n.*349C=
ENST00000373960.3:c.*349C= ENSP00000363071.3:n.*349C=
NM_001927.3:c.*349C= , LRG_380t1:c.*349C= NP_001918.3:n.*349C=
NM_001927.4:c.*349C= MANE Select NP_001918.3:n.*349C=
NM_001382708.1:c.*349C= NP_001369637.1:n.*349C=
NM_001382709.1:c.*349C= NP_001369638.1:n.*349C=
NM_001382710.1:c.*349C= NP_001369639.1:n.*349C=
NM_001382711.1:c.*349C= NP_001369640.1:n.*349C=
NM_001382712.1:c.1372-214C= NP_001369641.1:n.1372-214C=
NM_001382713.1:c.*349C= NP_001369642.1:n.*349C=