Canonical Allele Identifier: CA1329211241

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421350T= , CM000664.2:g.219421350T=	GRCh38
NC_000002.11:g.220286072T= , CM000664.1:g.220286072T=	GRCh37
NC_000002.10:g.219994316T=	NCBI36
NG_008043.1:g.7974T= , LRG_380:g.7974T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.508T=
ENST00000683013.1:n.422T=
ENST00000373960.4:c.1034T= MANE Select	ENSP00000363071.3:p.Leu345=
ENST00000373960.3:c.1034T=	ENSP00000363071.3:p.Leu345=
ENST00000477226.5:n.506T=
ENST00000492726.1:n.429T=
NM_001927.3:c.1034T= , LRG_380t1:c.1034T=	NP_001918.3:p.Leu345=
NM_001927.4:c.1034T= MANE Select	NP_001918.3:p.Leu345=
NM_001382708.1:c.1031T=	NP_001369637.1:p.Leu344=
NM_001382709.1:c.736-134T=	NP_001369638.1:n.736-134T=
NM_001382710.1:c.1024-59T=	NP_001369639.1:n.1024-59T=
NM_001382711.1:c.1024-11T=	NP_001369640.1:n.1024-11T=
NM_001382712.1:c.1034T=	NP_001369641.1:p.Leu345=
NM_001382713.1:c.764T=	NP_001369642.1:p.Leu255=