Canonical Allele Identifier: CA1329213229

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425952G= , CM000664.2:g.219425952G=	GRCh38
NC_000002.11:g.220290674G= , CM000664.1:g.220290674G=	GRCh37
NC_000002.10:g.219998918G=	NCBI36
NG_008043.1:g.12576G= , LRG_380:g.12576G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.849G=
ENST00000683013.1:n.763G=
ENST00000373960.4:c.1375G= MANE Select	ENSP00000363071.3:p.Val459=
ENST00000373960.3:c.1375G=	ENSP00000363071.3:p.Val459=
ENST00000483395.1:n.230G=
NM_001927.3:c.1375G= , LRG_380t1:c.1375G=	NP_001918.3:p.Val459=
NM_001927.4:c.1375G= MANE Select	NP_001918.3:p.Val459=
NM_001382708.1:c.1372G=	NP_001369637.1:p.Val458=
NM_001382709.1:c.943G=	NP_001369638.1:p.Val315=
NM_001382710.1:c.1306G=	NP_001369639.1:p.Val436=
NM_001382711.1:c.1354G=	NP_001369640.1:p.Val452=
NM_001382712.1:c.1371+207G=	NP_001369641.1:n.1371+207G=
NM_001382713.1:c.1105G=	NP_001369642.1:p.Val369=