Canonical Allele Identifier: CA1329213450
Gene: DES HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219426438G= , CM000664.2:g.219426438G= GRCh38
NC_000002.11:g.220291160G= , CM000664.1:g.220291160G= GRCh37
NC_000002.10:g.219999404G= NCBI36
NG_008043.1:g.13062G= , LRG_380:g.13062G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000477226.6:n.1335G=
ENST00000683013.1:n.1249G=
ENST00000373960.4:c.*448G= MANE Select ENSP00000363071.3:n.*448G=
ENST00000373960.3:c.*448G= ENSP00000363071.3:n.*448G=
NM_001927.3:c.*448G= , LRG_380t1:c.*448G= NP_001918.3:n.*448G=
NM_001927.4:c.*448G= MANE Select NP_001918.3:n.*448G=
NM_001382708.1:c.*448G= NP_001369637.1:n.*448G=
NM_001382709.1:c.*448G= NP_001369638.1:n.*448G=
NM_001382710.1:c.*448G= NP_001369639.1:n.*448G=
NM_001382711.1:c.*448G= NP_001369640.1:n.*448G=
NM_001382712.1:c.1372-115G= NP_001369641.1:n.1372-115G=
NM_001382713.1:c.*448G= NP_001369642.1:n.*448G=