Canonical Allele Identifier: CA1329213126

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425716A= , CM000664.2:g.219425716A=	GRCh38
NC_000002.11:g.220290438A= , CM000664.1:g.220290438A=	GRCh37
NC_000002.10:g.219998682A=	NCBI36
NG_008043.1:g.12340A= , LRG_380:g.12340A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.816A=
ENST00000683013.1:n.730A=
ENST00000373960.4:c.1342A= MANE Select	ENSP00000363071.3:p.Ile448=
ENST00000373960.3:c.1342A=	ENSP00000363071.3:p.Ile448=
ENST00000483395.1:n.197A=
NM_001927.3:c.1342A= , LRG_380t1:c.1342A=	NP_001918.3:p.Ile448=
NM_001927.4:c.1342A= MANE Select	NP_001918.3:p.Ile448=
NM_001382708.1:c.1339A=	NP_001369637.1:p.Ile447=
NM_001382709.1:c.910A=	NP_001369638.1:p.Ile304=
NM_001382710.1:c.1273A=	NP_001369639.1:p.Ile425=
NM_001382711.1:c.1321A=	NP_001369640.1:p.Ile441=
NM_001382712.1:c.1342A=	NP_001369641.1:p.Ile448=
NM_001382713.1:c.1072A=	NP_001369642.1:p.Ile358=