Canonical Allele Identifier: CA1329213197
Gene: DES HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219425879G= , CM000664.2:g.219425879G= GRCh38
NC_000002.11:g.220290601G= , CM000664.1:g.220290601G= GRCh37
NC_000002.10:g.219998845G= NCBI36
NG_008043.1:g.12503G= , LRG_380:g.12503G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000477226.6:n.846-70G=
ENST00000683013.1:n.760-70G=
ENST00000373960.4:c.1372-70G= MANE Select ENSP00000363071.3:n.1372-70G=
ENST00000373960.3:c.1372-70G= ENSP00000363071.3:n.1372-70G=
ENST00000483395.1:n.227-70G=
NM_001927.3:c.1372-70G= , LRG_380t1:c.1372-70G= NP_001918.3:n.1372-70G=
NM_001927.4:c.1372-70G= MANE Select NP_001918.3:n.1372-70G=
NM_001382708.1:c.1369-70G= NP_001369637.1:n.1369-70G=
NM_001382709.1:c.940-70G= NP_001369638.1:n.940-70G=
NM_001382710.1:c.1303-70G= NP_001369639.1:n.1303-70G=
NM_001382711.1:c.1351-70G= NP_001369640.1:n.1351-70G=
NM_001382712.1:c.1371+134G= NP_001369641.1:n.1371+134G=
NM_001382713.1:c.1102-70G= NP_001369642.1:n.1102-70G=