Canonical Allele Identifier: CA1329211295

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421456G= , CM000664.2:g.219421456G=	GRCh38
NC_000002.11:g.220286178G= , CM000664.1:g.220286178G=	GRCh37
NC_000002.10:g.219994422G=	NCBI36
NG_008043.1:g.8080G= , LRG_380:g.8080G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.614G=
ENST00000683013.1:n.528G=
ENST00000373960.4:c.1140G= MANE Select	ENSP00000363071.3:p.Glu380=
ENST00000373960.3:c.1140G=	ENSP00000363071.3:p.Glu380=
ENST00000477226.5:n.612G=
ENST00000492726.1:n.535G=
NM_001927.3:c.1140G= , LRG_380t1:c.1140G=	NP_001918.3:p.Glu380=
NM_001927.4:c.1140G= MANE Select	NP_001918.3:p.Glu380=
NM_001382708.1:c.1137G=	NP_001369637.1:p.Glu379=
NM_001382709.1:c.736-28G=	NP_001369638.1:n.736-28G=
NM_001382710.1:c.1071G=	NP_001369639.1:p.Glu357=
NM_001382711.1:c.1119G=	NP_001369640.1:p.Glu373=
NM_001382712.1:c.1140G=	NP_001369641.1:p.Glu380=
NM_001382713.1:c.870G=	NP_001369642.1:p.Glu290=