Canonical Allele Identifier: CA1329212318

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219423817C= , CM000664.2:g.219423817C=	GRCh38
NC_000002.11:g.220288539C= , CM000664.1:g.220288539C=	GRCh37
NC_000002.10:g.219996783C=	NCBI36
NG_008043.1:g.10441C= , LRG_380:g.10441C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.759C=
ENST00000683013.1:n.673C=
ENST00000373960.4:c.1285C= MANE Select	ENSP00000363071.3:p.Arg429=
ENST00000373960.3:c.1285C=	ENSP00000363071.3:p.Arg429=
ENST00000477226.5:n.757C=
ENST00000492726.1:n.680C=
NM_001927.3:c.1285C= , LRG_380t1:c.1285C=	NP_001918.3:p.Arg429=
NM_001927.4:c.1285C= MANE Select	NP_001918.3:p.Arg429=
NM_001382708.1:c.1282C=	NP_001369637.1:p.Arg428=
NM_001382709.1:c.853C=	NP_001369638.1:p.Arg285=
NM_001382710.1:c.1216C=	NP_001369639.1:p.Arg406=
NM_001382711.1:c.1264C=	NP_001369640.1:p.Arg422=
NM_001382712.1:c.1285C=	NP_001369641.1:p.Arg429=
NM_001382713.1:c.1015C=	NP_001369642.1:p.Arg339=