Canonical Allele Identifier: CA1329213174
Gene: DES HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219425817C= , CM000664.2:g.219425817C= GRCh38
NC_000002.11:g.220290539C= , CM000664.1:g.220290539C= GRCh37
NC_000002.10:g.219998783C= NCBI36
NG_008043.1:g.12441C= , LRG_380:g.12441C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000477226.6:n.845+72C=
ENST00000683013.1:n.759+72C=
ENST00000373960.4:c.1371+72C= MANE Select ENSP00000363071.3:n.1371+72C=
ENST00000373960.3:c.1371+72C= ENSP00000363071.3:n.1371+72C=
ENST00000483395.1:n.226+72C=
NM_001927.3:c.1371+72C= , LRG_380t1:c.1371+72C= NP_001918.3:n.1371+72C=
NM_001927.4:c.1371+72C= MANE Select NP_001918.3:n.1371+72C=
NM_001382708.1:c.1368+72C= NP_001369637.1:n.1368+72C=
NM_001382709.1:c.939+72C= NP_001369638.1:n.939+72C=
NM_001382710.1:c.1302+72C= NP_001369639.1:n.1302+72C=
NM_001382711.1:c.1350+72C= NP_001369640.1:n.1350+72C=
NM_001382712.1:c.1371+72C= NP_001369641.1:n.1371+72C=
NM_001382713.1:c.1101+72C= NP_001369642.1:n.1101+72C=