Canonical Allele Identifier: CA1329211248

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421365G= , CM000664.2:g.219421365G=	GRCh38
NC_000002.11:g.220286087G= , CM000664.1:g.220286087G=	GRCh37
NC_000002.10:g.219994331G=	NCBI36
NG_008043.1:g.7989G= , LRG_380:g.7989G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.523G=
ENST00000683013.1:n.437G=
ENST00000373960.4:c.1049G= MANE Select	ENSP00000363071.3:p.Arg350=
ENST00000373960.3:c.1049G=	ENSP00000363071.3:p.Arg350=
ENST00000477226.5:n.521G=
ENST00000492726.1:n.444G=
NM_001927.3:c.1049G= , LRG_380t1:c.1049G=	NP_001918.3:p.Arg350=
NM_001927.4:c.1049G= MANE Select	NP_001918.3:p.Arg350=
NM_001382708.1:c.1046G=	NP_001369637.1:p.Arg349=
NM_001382709.1:c.736-119G=	NP_001369638.1:n.736-119G=
NM_001382710.1:c.1024-44G=	NP_001369639.1:n.1024-44G=
NM_001382711.1:c.1028G=	NP_001369640.1:p.Arg343=
NM_001382712.1:c.1049G=	NP_001369641.1:p.Arg350=
NM_001382713.1:c.779G=	NP_001369642.1:p.Arg260=