Canonical Allele Identifier: CA1329211331

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421511G= , CM000664.2:g.219421511G=	GRCh38
NC_000002.11:g.220286233G= , CM000664.1:g.220286233G=	GRCh37
NC_000002.10:g.219994477G=	NCBI36
NG_008043.1:g.8135G= , LRG_380:g.8135G=

Transcript Alleles

HGVS	Amino-acid Change
NM_001927.4:c.1195G= MANE Select	NP_001918.3:p.Asp399=
ENST00000373960.4:c.1195G= MANE Select	ENSP00000363071.3:p.Asp399=
NM_001382708.1:c.1192G=	NP_001369637.1:p.Asp398=
NM_001382709.1:c.763G=	NP_001369638.1:p.Asp255=
NM_001382710.1:c.1126G=	NP_001369639.1:p.Asp376=
NM_001382711.1:c.1174G=	NP_001369640.1:p.Asp392=
NM_001382712.1:c.1195G=	NP_001369641.1:p.Asp399=
NM_001382713.1:c.925G=	NP_001369642.1:p.Asp309=
NM_001927.3:c.1195G= , LRG_380t1:c.1195G=	NP_001918.3:p.Asp399=
ENST00000373960.3:c.1195G=	ENSP00000363071.3:p.Asp399=
ENST00000477226.5:n.667G=
ENST00000477226.6:n.669G=
ENST00000492726.1:n.590G=
ENST00000683013.1:n.583G=