Canonical Allele Identifier: CA1329210889
Gene: DES HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219420571C= , CM000664.2:g.219420571C= GRCh38
NC_000002.11:g.220285293C= , CM000664.1:g.220285293C= GRCh37
NC_000002.10:g.219993537C= NCBI36
NG_008043.1:g.7195C= , LRG_380:g.7195C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000477226.6:n.286C=
ENST00000683013.1:n.200C=
ENST00000373960.4:c.812C= MANE Select ENSP00000363071.3:p.Thr271=
ENST00000373960.3:c.812C= ENSP00000363071.3:p.Thr271=
ENST00000477226.5:n.284C=
ENST00000492726.1:n.207C=
NM_001927.3:c.812C= , LRG_380t1:c.812C= NP_001918.3:p.Thr271=
NM_001927.4:c.812C= MANE Select NP_001918.3:p.Thr271=
NM_001382708.1:c.809C= NP_001369637.1:p.Thr270=
NM_001382709.1:c.735+225C= NP_001369638.1:n.735+225C=
NM_001382710.1:c.812C= NP_001369639.1:p.Thr271=
NM_001382711.1:c.812C= NP_001369640.1:p.Thr271=
NM_001382712.1:c.812C= NP_001369641.1:p.Thr271=
NM_001382713.1:c.542C= NP_001369642.1:p.Thr181=