Canonical Allele Identifier: CA1329211341
Gene: DES HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219421533G= , CM000664.2:g.219421533G= GRCh38
NC_000002.11:g.220286255G= , CM000664.1:g.220286255G= GRCh37
NC_000002.10:g.219994499G= NCBI36
NG_008043.1:g.8157G= , LRG_380:g.8157G=

Transcript Alleles

HGVS Amino-acid change
ENST00000477226.6:n.691G=
ENST00000683013.1:n.605G=
ENST00000373960.4:c.1217G= MANE Select ENSP00000363071.3:p.Arg406=
ENST00000373960.3:c.1217G= ENSP00000363071.3:p.Arg406=
ENST00000477226.5:n.689G=
ENST00000492726.1:n.612G=
NM_001927.3:c.1217G= , LRG_380t1:c.1217G= NP_001918.3:p.Arg406=
NM_001927.4:c.1217G= MANE Select NP_001918.3:p.Arg406=
NM_001382708.1:c.1214G= NP_001369637.1:p.Arg405=
NM_001382709.1:c.785G= NP_001369638.1:p.Arg262=
NM_001382710.1:c.1148G= NP_001369639.1:p.Arg383=
NM_001382711.1:c.1196G= NP_001369640.1:p.Arg399=
NM_001382712.1:c.1217G= NP_001369641.1:p.Arg406=
NM_001382713.1:c.947G= NP_001369642.1:p.Arg316=