Canonical Allele Identifier: CA1329210921
Gene: DES HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219420644G= , CM000664.2:g.219420644G= GRCh38
NC_000002.11:g.220285366G= , CM000664.1:g.220285366G= GRCh37
NC_000002.10:g.219993610G= NCBI36
NG_008043.1:g.7268G= , LRG_380:g.7268G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000477226.6:n.359G=
ENST00000683013.1:n.273G=
ENST00000373960.4:c.885G= MANE Select ENSP00000363071.3:p.Trp295=
ENST00000373960.3:c.885G= ENSP00000363071.3:p.Trp295=
ENST00000477226.5:n.357G=
ENST00000492726.1:n.280G=
NM_001927.3:c.885G= , LRG_380t1:c.885G= NP_001918.3:p.Trp295=
NM_001927.4:c.885G= MANE Select NP_001918.3:p.Trp295=
NM_001382708.1:c.882G= NP_001369637.1:p.Trp294=
NM_001382709.1:c.735+298G= NP_001369638.1:n.735+298G=
NM_001382710.1:c.885G= NP_001369639.1:p.Trp295=
NM_001382711.1:c.885G= NP_001369640.1:p.Trp295=
NM_001382712.1:c.885G= NP_001369641.1:p.Trp295=
NM_001382713.1:c.615G= NP_001369642.1:p.Trp205=