Canonical Allele Identifier: CA1329213128

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425723C= , CM000664.2:g.219425723C=	GRCh38
NC_000002.11:g.220290445C= , CM000664.1:g.220290445C=	GRCh37
NC_000002.10:g.219998689C=	NCBI36
NG_008043.1:g.12347C= , LRG_380:g.12347C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.823C=
ENST00000683013.1:n.737C=
ENST00000373960.4:c.1349C= MANE Select	ENSP00000363071.3:p.Thr450=
ENST00000373960.3:c.1349C=	ENSP00000363071.3:p.Thr450=
ENST00000483395.1:n.204C=
NM_001927.3:c.1349C= , LRG_380t1:c.1349C=	NP_001918.3:p.Thr450=
NM_001927.4:c.1349C= MANE Select	NP_001918.3:p.Thr450=
NM_001382708.1:c.1346C=	NP_001369637.1:p.Thr449=
NM_001382709.1:c.917C=	NP_001369638.1:p.Thr306=
NM_001382710.1:c.1280C=	NP_001369639.1:p.Thr427=
NM_001382711.1:c.1328C=	NP_001369640.1:p.Thr443=
NM_001382712.1:c.1349C=	NP_001369641.1:p.Thr450=
NM_001382713.1:c.1079C=	NP_001369642.1:p.Thr360=