Canonical Allele Identifier: CA1329211357
Gene: DES HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219421560G= , CM000664.2:g.219421560G= GRCh38
NC_000002.11:g.220286282G= , CM000664.1:g.220286282G= GRCh37
NC_000002.10:g.219994526G= NCBI36
NG_008043.1:g.8184G= , LRG_380:g.8184G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000477226.6:n.718G=
ENST00000683013.1:n.632G=
ENST00000373960.4:c.1244G= MANE Select ENSP00000363071.3:p.Arg415=
ENST00000373960.3:c.1244G= ENSP00000363071.3:p.Arg415=
ENST00000477226.5:n.716G=
ENST00000492726.1:n.639G=
NM_001927.3:c.1244G= , LRG_380t1:c.1244G= NP_001918.3:p.Arg415=
NM_001927.4:c.1244G= MANE Select NP_001918.3:p.Arg415=
NM_001382708.1:c.1241G= NP_001369637.1:p.Arg414=
NM_001382709.1:c.812G= NP_001369638.1:p.Arg271=
NM_001382710.1:c.1175G= NP_001369639.1:p.Arg392=
NM_001382711.1:c.1223G= NP_001369640.1:p.Arg408=
NM_001382712.1:c.1244G= NP_001369641.1:p.Arg415=
NM_001382713.1:c.974G= NP_001369642.1:p.Arg325=