Canonical Allele Identifier: CA1329213115

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425699C= , CM000664.2:g.219425699C=	GRCh38
NC_000002.11:g.220290421C= , CM000664.1:g.220290421C=	GRCh37
NC_000002.10:g.219998665C=	NCBI36
NG_008043.1:g.12323C= , LRG_380:g.12323C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001927.4:c.1325C= MANE Select	NP_001918.3:p.Thr442=
ENST00000373960.4:c.1325C= MANE Select	ENSP00000363071.3:p.Thr442=
NM_001382708.1:c.1322C=	NP_001369637.1:p.Thr441=
NM_001382709.1:c.893C=	NP_001369638.1:p.Thr298=
NM_001382710.1:c.1256C=	NP_001369639.1:p.Thr419=
NM_001382711.1:c.1304C=	NP_001369640.1:p.Thr435=
NM_001382712.1:c.1325C=	NP_001369641.1:p.Thr442=
NM_001382713.1:c.1055C=	NP_001369642.1:p.Thr352=
NM_001927.3:c.1325C= , LRG_380t1:c.1325C=	NP_001918.3:p.Thr442=
ENST00000373960.3:c.1325C=	ENSP00000363071.3:p.Thr442=
ENST00000477226.6:n.799C=
ENST00000483395.1:n.180C=
ENST00000683013.1:n.713C=