Canonical Allele Identifier: CA1329213203
Gene: DES HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219425900C= , CM000664.2:g.219425900C= GRCh38
NC_000002.11:g.220290622C= , CM000664.1:g.220290622C= GRCh37
NC_000002.10:g.219998866C= NCBI36
NG_008043.1:g.12524C= , LRG_380:g.12524C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000477226.6:n.846-49C=
ENST00000683013.1:n.760-49C=
ENST00000373960.4:c.1372-49C= MANE Select ENSP00000363071.3:n.1372-49C=
ENST00000373960.3:c.1372-49C= ENSP00000363071.3:n.1372-49C=
ENST00000483395.1:n.227-49C=
NM_001927.3:c.1372-49C= , LRG_380t1:c.1372-49C= NP_001918.3:n.1372-49C=
NM_001927.4:c.1372-49C= MANE Select NP_001918.3:n.1372-49C=
NM_001382708.1:c.1369-49C= NP_001369637.1:n.1369-49C=
NM_001382709.1:c.940-49C= NP_001369638.1:n.940-49C=
NM_001382710.1:c.1303-49C= NP_001369639.1:n.1303-49C=
NM_001382711.1:c.1351-49C= NP_001369640.1:n.1351-49C=
NM_001382712.1:c.1371+155C= NP_001369641.1:n.1371+155C=
NM_001382713.1:c.1102-49C= NP_001369642.1:n.1102-49C=