Canonical Allele Identifier: CA1329213236

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425975G= , CM000664.2:g.219425975G=	GRCh38
NC_000002.11:g.220290697G= , CM000664.1:g.220290697G=	GRCh37
NC_000002.10:g.219998941G=	NCBI36
NG_008043.1:g.12599G= , LRG_380:g.12599G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.872G=
ENST00000683013.1:n.786G=
ENST00000373960.4:c.1398G= MANE Select	ENSP00000363071.3:p.Gln466=
ENST00000373960.3:c.1398G=	ENSP00000363071.3:p.Gln466=
ENST00000483395.1:n.253G=
NM_001927.3:c.1398G= , LRG_380t1:c.1398G=	NP_001918.3:p.Gln466=
NM_001927.4:c.1398G= MANE Select	NP_001918.3:p.Gln466=
NM_001382708.1:c.1395G=	NP_001369637.1:p.Gln465=
NM_001382709.1:c.966G=	NP_001369638.1:p.Gln322=
NM_001382710.1:c.1329G=	NP_001369639.1:p.Gln443=
NM_001382711.1:c.1377G=	NP_001369640.1:p.Gln459=
NM_001382712.1:c.1371+230G=	NP_001369641.1:n.1371+230G=
NM_001382713.1:c.1128G=	NP_001369642.1:p.Gln376=