Canonical Allele Identifier: CA1329213439

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219426420C= , CM000664.2:g.219426420C=	GRCh38
NC_000002.11:g.220291142C= , CM000664.1:g.220291142C=	GRCh37
NC_000002.10:g.219999386C=	NCBI36
NG_008043.1:g.13044C= , LRG_380:g.13044C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.1317C=
ENST00000683013.1:n.1231C=
ENST00000373960.4:c.*430C= MANE Select	ENSP00000363071.3:n.*430C=
ENST00000373960.3:c.*430C=	ENSP00000363071.3:n.*430C=
NM_001927.3:c.*430C= , LRG_380t1:c.*430C=	NP_001918.3:n.*430C=
NM_001927.4:c.*430C= MANE Select	NP_001918.3:n.*430C=
NM_001382708.1:c.*430C=	NP_001369637.1:n.*430C=
NM_001382709.1:c.*430C=	NP_001369638.1:n.*430C=
NM_001382710.1:c.*430C=	NP_001369639.1:n.*430C=
NM_001382711.1:c.*430C=	NP_001369640.1:n.*430C=
NM_001382712.1:c.1372-133C=	NP_001369641.1:n.1372-133C=
NM_001382713.1:c.*430C=	NP_001369642.1:n.*430C=