Canonical Allele Identifier: CA1329211258

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421385G= , CM000664.2:g.219421385G=	GRCh38
NC_000002.11:g.220286107G= , CM000664.1:g.220286107G=	GRCh37
NC_000002.10:g.219994351G=	NCBI36
NG_008043.1:g.8009G= , LRG_380:g.8009G=

Transcript Alleles

HGVS	Amino-acid Change
NM_001927.4:c.1069G= MANE Select	NP_001918.3:p.Ala357=
ENST00000373960.4:c.1069G= MANE Select	ENSP00000363071.3:p.Ala357=
NM_001382708.1:c.1066G=	NP_001369637.1:p.Ala356=
NM_001382709.1:c.736-99G=	NP_001369638.1:n.736-99G=
NM_001382710.1:c.1024-24G=	NP_001369639.1:n.1024-24G=
NM_001382711.1:c.1048G=	NP_001369640.1:p.Ala350=
NM_001382712.1:c.1069G=	NP_001369641.1:p.Ala357=
NM_001382713.1:c.799G=	NP_001369642.1:p.Ala267=
NM_001927.3:c.1069G= , LRG_380t1:c.1069G=	NP_001918.3:p.Ala357=
ENST00000373960.3:c.1069G=	ENSP00000363071.3:p.Ala357=
ENST00000477226.5:n.541G=
ENST00000477226.6:n.543G=
ENST00000492726.1:n.464G=
ENST00000683013.1:n.457G=