Canonical Allele Identifier: CA1329213231

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425962C= , CM000664.2:g.219425962C=	GRCh38
NC_000002.11:g.220290684C= , CM000664.1:g.220290684C=	GRCh37
NC_000002.10:g.219998928C=	NCBI36
NG_008043.1:g.12586C= , LRG_380:g.12586C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.859C=
ENST00000683013.1:n.773C=
ENST00000373960.4:c.1385C= MANE Select	ENSP00000363071.3:p.Ala462=
ENST00000373960.3:c.1385C=	ENSP00000363071.3:p.Ala462=
ENST00000483395.1:n.240C=
NM_001927.3:c.1385C= , LRG_380t1:c.1385C=	NP_001918.3:p.Ala462=
NM_001927.4:c.1385C= MANE Select	NP_001918.3:p.Ala462=
NM_001382708.1:c.1382C=	NP_001369637.1:p.Ala461=
NM_001382709.1:c.953C=	NP_001369638.1:p.Ala318=
NM_001382710.1:c.1316C=	NP_001369639.1:p.Ala439=
NM_001382711.1:c.1364C=	NP_001369640.1:p.Ala455=
NM_001382712.1:c.1371+217C=	NP_001369641.1:n.1371+217C=
NM_001382713.1:c.1115C=	NP_001369642.1:p.Ala372=