Canonical Allele Identifier: CA1329213234
Gene: DES HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219425964A= , CM000664.2:g.219425964A= GRCh38
NC_000002.11:g.220290686A= , CM000664.1:g.220290686A= GRCh37
NC_000002.10:g.219998930A= NCBI36
NG_008043.1:g.12588A= , LRG_380:g.12588A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000477226.6:n.861A=
ENST00000683013.1:n.775A=
ENST00000373960.4:c.1387A= MANE Select ENSP00000363071.3:p.Thr463=
ENST00000373960.3:c.1387A= ENSP00000363071.3:p.Thr463=
ENST00000483395.1:n.242A=
NM_001927.3:c.1387A= , LRG_380t1:c.1387A= NP_001918.3:p.Thr463=
NM_001927.4:c.1387A= MANE Select NP_001918.3:p.Thr463=
NM_001382708.1:c.1384A= NP_001369637.1:p.Thr462=
NM_001382709.1:c.955A= NP_001369638.1:p.Thr319=
NM_001382710.1:c.1318A= NP_001369639.1:p.Thr440=
NM_001382711.1:c.1366A= NP_001369640.1:p.Thr456=
NM_001382712.1:c.1371+219A= NP_001369641.1:n.1371+219A=
NM_001382713.1:c.1117A= NP_001369642.1:p.Thr373=