Canonical Allele Identifier: CA1329211262

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421394G= , CM000664.2:g.219421394G=	GRCh38
NC_000002.11:g.220286116G= , CM000664.1:g.220286116G=	GRCh37
NC_000002.10:g.219994360G=	NCBI36
NG_008043.1:g.8018G= , LRG_380:g.8018G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.552G=
ENST00000683013.1:n.466G=
ENST00000373960.4:c.1078G= MANE Select	ENSP00000363071.3:p.Ala360=
ENST00000373960.3:c.1078G=	ENSP00000363071.3:p.Ala360=
ENST00000477226.5:n.550G=
ENST00000492726.1:n.473G=
NM_001927.3:c.1078G= , LRG_380t1:c.1078G=	NP_001918.3:p.Ala360=
NM_001927.4:c.1078G= MANE Select	NP_001918.3:p.Ala360=
NM_001382708.1:c.1075G=	NP_001369637.1:p.Ala359=
NM_001382709.1:c.736-90G=	NP_001369638.1:n.736-90G=
NM_001382710.1:c.1024-15G=	NP_001369639.1:n.1024-15G=
NM_001382711.1:c.1057G=	NP_001369640.1:p.Ala353=
NM_001382712.1:c.1078G=	NP_001369641.1:p.Ala360=
NM_001382713.1:c.808G=	NP_001369642.1:p.Ala270=