Canonical Allele Identifier: CA1329211238

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421343G= , CM000664.2:g.219421343G=	GRCh38
NC_000002.11:g.220286065G= , CM000664.1:g.220286065G=	GRCh37
NC_000002.10:g.219994309G=	NCBI36
NG_008043.1:g.7967G= , LRG_380:g.7967G=

Transcript Alleles

HGVS	Amino-acid Change
NM_001927.4:c.1027G= MANE Select	NP_001918.3:p.Asp343=
ENST00000373960.4:c.1027G= MANE Select	ENSP00000363071.3:p.Asp343=
NM_001382708.1:c.1024G=	NP_001369637.1:p.Asp342=
NM_001382709.1:c.736-141G=	NP_001369638.1:n.736-141G=
NM_001382710.1:c.1024-66G=	NP_001369639.1:n.1024-66G=
NM_001382711.1:c.1024-18G=	NP_001369640.1:n.1024-18G=
NM_001382712.1:c.1027G=	NP_001369641.1:p.Asp343=
NM_001382713.1:c.757G=	NP_001369642.1:p.Asp253=
NM_001927.3:c.1027G= , LRG_380t1:c.1027G=	NP_001918.3:p.Asp343=
ENST00000373960.3:c.1027G=	ENSP00000363071.3:p.Asp343=
ENST00000477226.5:n.499G=
ENST00000477226.6:n.501G=
ENST00000492726.1:n.422G=
ENST00000683013.1:n.415G=