Canonical Allele Identifier: CA1329210950
Gene: DES HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219420693C= , CM000664.2:g.219420693C= GRCh38
NC_000002.11:g.220285415C= , CM000664.1:g.220285415C= GRCh37
NC_000002.10:g.219993659C= NCBI36
NG_008043.1:g.7317C= , LRG_380:g.7317C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000477226.6:n.371+37C=
ENST00000683013.1:n.285+37C=
ENST00000373960.4:c.897+37C= MANE Select ENSP00000363071.3:n.897+37C=
ENST00000373960.3:c.897+37C= ENSP00000363071.3:n.897+37C=
ENST00000477226.5:n.369+37C=
ENST00000492726.1:n.292+37C=
NM_001927.3:c.897+37C= , LRG_380t1:c.897+37C= NP_001918.3:n.897+37C=
NM_001927.4:c.897+37C= MANE Select NP_001918.3:n.897+37C=
NM_001382708.1:c.894+37C= NP_001369637.1:n.894+37C=
NM_001382709.1:c.735+347C= NP_001369638.1:n.735+347C=
NM_001382710.1:c.897+37C= NP_001369639.1:n.897+37C=
NM_001382711.1:c.897+37C= NP_001369640.1:n.897+37C=
NM_001382712.1:c.897+37C= NP_001369641.1:n.897+37C=
NM_001382713.1:c.627+37C= NP_001369642.1:n.627+37C=