Canonical Allele Identifier: CA1329211333

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421517G= , CM000664.2:g.219421517G=	GRCh38
NC_000002.11:g.220286239G= , CM000664.1:g.220286239G=	GRCh37
NC_000002.10:g.219994483G=	NCBI36
NG_008043.1:g.8141G= , LRG_380:g.8141G=

Transcript Alleles

HGVS	Amino-acid Change
NM_001927.4:c.1201G= MANE Select	NP_001918.3:p.Glu401=
ENST00000373960.4:c.1201G= MANE Select	ENSP00000363071.3:p.Glu401=
NM_001382708.1:c.1198G=	NP_001369637.1:p.Glu400=
NM_001382709.1:c.769G=	NP_001369638.1:p.Glu257=
NM_001382710.1:c.1132G=	NP_001369639.1:p.Glu378=
NM_001382711.1:c.1180G=	NP_001369640.1:p.Glu394=
NM_001382712.1:c.1201G=	NP_001369641.1:p.Glu401=
NM_001382713.1:c.931G=	NP_001369642.1:p.Glu311=
NM_001927.3:c.1201G= , LRG_380t1:c.1201G=	NP_001918.3:p.Glu401=
ENST00000373960.3:c.1201G=	ENSP00000363071.3:p.Glu401=
ENST00000477226.5:n.673G=
ENST00000477226.6:n.675G=
ENST00000492726.1:n.596G=
ENST00000683013.1:n.589G=