Canonical Allele Identifier: CA1329213136

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425734C= , CM000664.2:g.219425734C=	GRCh38
NC_000002.11:g.220290456C= , CM000664.1:g.220290456C=	GRCh37
NC_000002.10:g.219998700C=	NCBI36
NG_008043.1:g.12358C= , LRG_380:g.12358C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.834C=
ENST00000683013.1:n.748C=
ENST00000373960.4:c.1360C= MANE Select	ENSP00000363071.3:p.Arg454=
ENST00000373960.3:c.1360C=	ENSP00000363071.3:p.Arg454=
ENST00000483395.1:n.215C=
NM_001927.3:c.1360C= , LRG_380t1:c.1360C=	NP_001918.3:p.Arg454=
NM_001927.4:c.1360C= MANE Select	NP_001918.3:p.Arg454=
NM_001382708.1:c.1357C=	NP_001369637.1:p.Arg453=
NM_001382709.1:c.928C=	NP_001369638.1:p.Arg310=
NM_001382710.1:c.1291C=	NP_001369639.1:p.Arg431=
NM_001382711.1:c.1339C=	NP_001369640.1:p.Arg447=
NM_001382712.1:c.1360C=	NP_001369641.1:p.Arg454=
NM_001382713.1:c.1090C=	NP_001369642.1:p.Arg364=