Canonical Allele Identifier: CA1329212297
Gene: DES HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219423787C= , CM000664.2:g.219423787C= GRCh38
NC_000002.11:g.220288509C= , CM000664.1:g.220288509C= GRCh37
NC_000002.10:g.219996753C= NCBI36
NG_008043.1:g.10411C= , LRG_380:g.10411C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000477226.6:n.729C=
ENST00000683013.1:n.643C=
ENST00000373960.4:c.1255C= MANE Select ENSP00000363071.3:p.Pro419=
ENST00000373960.3:c.1255C= ENSP00000363071.3:p.Pro419=
ENST00000477226.5:n.727C=
ENST00000492726.1:n.650C=
NM_001927.3:c.1255C= , LRG_380t1:c.1255C= NP_001918.3:p.Pro419=
NM_001927.4:c.1255C= MANE Select NP_001918.3:p.Pro419=
NM_001382708.1:c.1252C= NP_001369637.1:p.Pro418=
NM_001382709.1:c.823C= NP_001369638.1:p.Pro275=
NM_001382710.1:c.1186C= NP_001369639.1:p.Pro396=
NM_001382711.1:c.1234C= NP_001369640.1:p.Pro412=
NM_001382712.1:c.1255C= NP_001369641.1:p.Pro419=
NM_001382713.1:c.985C= NP_001369642.1:p.Pro329=