Canonical Allele Identifier: CA1329211283

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421438C= , CM000664.2:g.219421438C=	GRCh38
NC_000002.11:g.220286160C= , CM000664.1:g.220286160C=	GRCh37
NC_000002.10:g.219994404C=	NCBI36
NG_008043.1:g.8062C= , LRG_380:g.8062C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.596C=
ENST00000683013.1:n.510C=
ENST00000373960.4:c.1122C= MANE Select	ENSP00000363071.3:p.Ile374=
ENST00000373960.3:c.1122C=	ENSP00000363071.3:p.Ile374=
ENST00000477226.5:n.594C=
ENST00000492726.1:n.517C=
NM_001927.3:c.1122C= , LRG_380t1:c.1122C=	NP_001918.3:p.Ile374=
NM_001927.4:c.1122C= MANE Select	NP_001918.3:p.Ile374=
NM_001382708.1:c.1119C=	NP_001369637.1:p.Ile373=
NM_001382709.1:c.736-46C=	NP_001369638.1:n.736-46C=
NM_001382710.1:c.1053C=	NP_001369639.1:p.Ile351=
NM_001382711.1:c.1101C=	NP_001369640.1:p.Ile367=
NM_001382712.1:c.1122C=	NP_001369641.1:p.Ile374=
NM_001382713.1:c.852C=	NP_001369642.1:p.Ile284=