Canonical Allele Identifier: CA1329211352

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421553G= , CM000664.2:g.219421553G=	GRCh38
NC_000002.11:g.220286275G= , CM000664.1:g.220286275G=	GRCh37
NC_000002.10:g.219994519G=	NCBI36
NG_008043.1:g.8177G= , LRG_380:g.8177G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.711G=
ENST00000683013.1:n.625G=
ENST00000373960.4:c.1237G= MANE Select	ENSP00000363071.3:p.Glu413=
ENST00000373960.3:c.1237G=	ENSP00000363071.3:p.Glu413=
ENST00000477226.5:n.709G=
ENST00000492726.1:n.632G=
NM_001927.3:c.1237G= , LRG_380t1:c.1237G=	NP_001918.3:p.Glu413=
NM_001927.4:c.1237G= MANE Select	NP_001918.3:p.Glu413=
NM_001382708.1:c.1234G=	NP_001369637.1:p.Glu412=
NM_001382709.1:c.805G=	NP_001369638.1:p.Glu269=
NM_001382710.1:c.1168G=	NP_001369639.1:p.Glu390=
NM_001382711.1:c.1216G=	NP_001369640.1:p.Glu406=
NM_001382712.1:c.1237G=	NP_001369641.1:p.Glu413=
NM_001382713.1:c.967G=	NP_001369642.1:p.Glu323=