Canonical Allele Identifier: CA350691097
Gene: DES HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219420550A>C , CM000664.2:g.219420550A>C GRCh38
NC_000002.11:g.220285272A>C , CM000664.1:g.220285272A>C GRCh37
NC_000002.10:g.219993516A>C NCBI36
NG_008043.1:g.7174A>C , LRG_380:g.7174A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000477226.6:n.265A>C
ENST00000683013.1:n.179A>C
ENST00000373960.4:c.791A>C MANE Select ENSP00000363071.3:p.Asp264Ala
ENST00000373960.3:c.791A>C ENSP00000363071.3:p.Asp264Ala
ENST00000477226.5:n.263A>C
ENST00000492726.1:n.186A>C
NM_001927.3:c.791A>C , LRG_380t1:c.791A>C NP_001918.3:p.Asp264Ala
NM_001927.4:c.791A>C MANE Select NP_001918.3:p.Asp264Ala
NM_001382708.1:c.788A>C NP_001369637.1:p.Asp263Ala
NM_001382709.1:c.735+204A>C NP_001369638.1:n.735+204A>C
NM_001382710.1:c.791A>C NP_001369639.1:p.Asp264Ala
NM_001382711.1:c.791A>C NP_001369640.1:p.Asp264Ala
NM_001382712.1:c.791A>C NP_001369641.1:p.Asp264Ala
NM_001382713.1:c.521A>C NP_001369642.1:p.Asp174Ala