Canonical Allele Identifier: CA1329213108
Gene: DES HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219425687C= , CM000664.2:g.219425687C= GRCh38
NC_000002.11:g.220290409C= , CM000664.1:g.220290409C= GRCh37
NC_000002.10:g.219998653C= NCBI36
NG_008043.1:g.12311C= , LRG_380:g.12311C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000477226.6:n.787C=
ENST00000683013.1:n.701C=
ENST00000373960.4:c.1313C= MANE Select ENSP00000363071.3:p.Ser438=
ENST00000373960.3:c.1313C= ENSP00000363071.3:p.Ser438=
ENST00000483395.1:n.168C=
NM_001927.3:c.1313C= , LRG_380t1:c.1313C= NP_001918.3:p.Ser438=
NM_001927.4:c.1313C= MANE Select NP_001918.3:p.Ser438=
NM_001382708.1:c.1310C= NP_001369637.1:p.Ser437=
NM_001382709.1:c.881C= NP_001369638.1:p.Ser294=
NM_001382710.1:c.1244C= NP_001369639.1:p.Ser415=
NM_001382711.1:c.1292C= NP_001369640.1:p.Ser431=
NM_001382712.1:c.1313C= NP_001369641.1:p.Ser438=
NM_001382713.1:c.1043C= NP_001369642.1:p.Ser348=