Canonical Allele Identifier: CA1329213237

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425981A= , CM000664.2:g.219425981A=	GRCh38
NC_000002.11:g.220290703A= , CM000664.1:g.220290703A=	GRCh37
NC_000002.10:g.219998947A=	NCBI36
NG_008043.1:g.12605A= , LRG_380:g.12605A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.878A=
ENST00000683013.1:n.792A=
ENST00000373960.4:c.1404A= MANE Select	ENSP00000363071.3:p.Glu468=
ENST00000373960.3:c.1404A=	ENSP00000363071.3:p.Glu468=
ENST00000483395.1:n.259A=
NM_001927.3:c.1404A= , LRG_380t1:c.1404A=	NP_001918.3:p.Glu468=
NM_001927.4:c.1404A= MANE Select	NP_001918.3:p.Glu468=
NM_001382708.1:c.1401A=	NP_001369637.1:p.Glu467=
NM_001382709.1:c.972A=	NP_001369638.1:p.Glu324=
NM_001382710.1:c.1335A=	NP_001369639.1:p.Glu445=
NM_001382711.1:c.1383A=	NP_001369640.1:p.Glu461=
NM_001382712.1:c.1371+236A=	NP_001369641.1:n.1371+236A=
NM_001382713.1:c.1134A=	NP_001369642.1:p.Glu378=