Canonical Allele Identifier: CA1329211259

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421386C= , CM000664.2:g.219421386C=	GRCh38
NC_000002.11:g.220286108C= , CM000664.1:g.220286108C=	GRCh37
NC_000002.10:g.219994352C=	NCBI36
NG_008043.1:g.8010C= , LRG_380:g.8010C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.544C=
ENST00000683013.1:n.458C=
ENST00000373960.4:c.1070C= MANE Select	ENSP00000363071.3:p.Ala357=
ENST00000373960.3:c.1070C=	ENSP00000363071.3:p.Ala357=
ENST00000477226.5:n.542C=
ENST00000492726.1:n.465C=
NM_001927.3:c.1070C= , LRG_380t1:c.1070C=	NP_001918.3:p.Ala357=
NM_001927.4:c.1070C= MANE Select	NP_001918.3:p.Ala357=
NM_001382708.1:c.1067C=	NP_001369637.1:p.Ala356=
NM_001382709.1:c.736-98C=	NP_001369638.1:n.736-98C=
NM_001382710.1:c.1024-23C=	NP_001369639.1:n.1024-23C=
NM_001382711.1:c.1049C=	NP_001369640.1:p.Ala350=
NM_001382712.1:c.1070C=	NP_001369641.1:p.Ala357=
NM_001382713.1:c.800C=	NP_001369642.1:p.Ala267=