Canonical Allele Identifier: CA1329211254

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421379C= , CM000664.2:g.219421379C=	GRCh38
NC_000002.11:g.220286101C= , CM000664.1:g.220286101C=	GRCh37
NC_000002.10:g.219994345C=	NCBI36
NG_008043.1:g.8003C= , LRG_380:g.8003C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.537C=
ENST00000683013.1:n.451C=
ENST00000373960.4:c.1063C= MANE Select	ENSP00000363071.3:p.Arg355=
ENST00000373960.3:c.1063C=	ENSP00000363071.3:p.Arg355=
ENST00000477226.5:n.535C=
ENST00000492726.1:n.458C=
NM_001927.3:c.1063C= , LRG_380t1:c.1063C=	NP_001918.3:p.Arg355=
NM_001927.4:c.1063C= MANE Select	NP_001918.3:p.Arg355=
NM_001382708.1:c.1060C=	NP_001369637.1:p.Arg354=
NM_001382709.1:c.736-105C=	NP_001369638.1:n.736-105C=
NM_001382710.1:c.1024-30C=	NP_001369639.1:n.1024-30C=
NM_001382711.1:c.1042C=	NP_001369640.1:p.Arg348=
NM_001382712.1:c.1063C=	NP_001369641.1:p.Arg355=
NM_001382713.1:c.793C=	NP_001369642.1:p.Arg265=