Canonical Allele Identifier: CA1329211235
Gene: DES HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219421340A= , CM000664.2:g.219421340A= GRCh38
NC_000002.11:g.220286062A= , CM000664.1:g.220286062A= GRCh37
NC_000002.10:g.219994306A= NCBI36
NG_008043.1:g.7964A= , LRG_380:g.7964A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000477226.6:n.498A=
ENST00000683013.1:n.412A=
ENST00000373960.4:c.1024A= MANE Select ENSP00000363071.3:p.Asn342=
ENST00000373960.3:c.1024A= ENSP00000363071.3:p.Asn342=
ENST00000477226.5:n.496A=
ENST00000492726.1:n.419A=
NM_001927.3:c.1024A= , LRG_380t1:c.1024A= NP_001918.3:p.Asn342=
NM_001927.4:c.1024A= MANE Select NP_001918.3:p.Asn342=
NM_001382708.1:c.1021A= NP_001369637.1:p.Asn341=
NM_001382709.1:c.736-144A= NP_001369638.1:n.736-144A=
NM_001382710.1:c.1024-69A= NP_001369639.1:n.1024-69A=
NM_001382711.1:c.1024-21A= NP_001369640.1:n.1024-21A=
NM_001382712.1:c.1024A= NP_001369641.1:p.Asn342=
NM_001382713.1:c.754A= NP_001369642.1:p.Asn252=