Canonical Allele Identifier: CA1329211340
Gene: DES HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219421532C= , CM000664.2:g.219421532C= GRCh38
NC_000002.11:g.220286254C= , CM000664.1:g.220286254C= GRCh37
NC_000002.10:g.219994498C= NCBI36
NG_008043.1:g.8156C= , LRG_380:g.8156C=

Transcript Alleles

HGVS Amino-acid change
ENST00000477226.6:n.690C=
ENST00000683013.1:n.604C=
ENST00000373960.4:c.1216C= MANE Select ENSP00000363071.3:p.Arg406=
ENST00000373960.3:c.1216C= ENSP00000363071.3:p.Arg406=
ENST00000477226.5:n.688C=
ENST00000492726.1:n.611C=
NM_001927.3:c.1216C= , LRG_380t1:c.1216C= NP_001918.3:p.Arg406=
NM_001927.4:c.1216C= MANE Select NP_001918.3:p.Arg406=
NM_001382708.1:c.1213C= NP_001369637.1:p.Arg405=
NM_001382709.1:c.784C= NP_001369638.1:p.Arg262=
NM_001382710.1:c.1147C= NP_001369639.1:p.Arg383=
NM_001382711.1:c.1195C= NP_001369640.1:p.Arg399=
NM_001382712.1:c.1216C= NP_001369641.1:p.Arg406=
NM_001382713.1:c.946C= NP_001369642.1:p.Arg316=