Canonical Allele Identifier: CA350690758
Gene: DES HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219420505A>T , CM000664.2:g.219420505A>T GRCh38
NC_000002.11:g.220285227A>T , CM000664.1:g.220285227A>T GRCh37
NC_000002.10:g.219993471A>T NCBI36
NG_008043.1:g.7129A>T , LRG_380:g.7129A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000477226.6:n.220A>T
ENST00000683013.1:n.134A>T
ENST00000373960.4:c.746A>T MANE Select ENSP00000363071.3:p.Glu249Val
ENST00000373960.3:c.746A>T ENSP00000363071.3:p.Glu249Val
ENST00000477226.5:n.218A>T
ENST00000492726.1:n.141A>T
NM_001927.3:c.746A>T , LRG_380t1:c.746A>T NP_001918.3:p.Glu249Val
NM_001927.4:c.746A>T MANE Select NP_001918.3:p.Glu249Val
NM_001382708.1:c.743A>T NP_001369637.1:p.Glu248Val
NM_001382709.1:c.735+159A>T NP_001369638.1:n.735+159A>T
NM_001382710.1:c.746A>T NP_001369639.1:p.Glu249Val
NM_001382711.1:c.746A>T NP_001369640.1:p.Glu249Val
NM_001382712.1:c.746A>T NP_001369641.1:p.Glu249Val
NM_001382713.1:c.496-20A>T NP_001369642.1:n.496-20A>T