Canonical Allele Identifier: CA1329213192

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425860T= , CM000664.2:g.219425860T=	GRCh38
NC_000002.11:g.220290582T= , CM000664.1:g.220290582T=	GRCh37
NC_000002.10:g.219998826T=	NCBI36
NG_008043.1:g.12484T= , LRG_380:g.12484T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.846-89T=
ENST00000683013.1:n.760-89T=
ENST00000373960.4:c.1372-89T= MANE Select	ENSP00000363071.3:n.1372-89T=
ENST00000373960.3:c.1372-89T=	ENSP00000363071.3:n.1372-89T=
ENST00000483395.1:n.227-89T=
NM_001927.3:c.1372-89T= , LRG_380t1:c.1372-89T=	NP_001918.3:n.1372-89T=
NM_001927.4:c.1372-89T= MANE Select	NP_001918.3:n.1372-89T=
NM_001382708.1:c.1369-89T=	NP_001369637.1:n.1369-89T=
NM_001382709.1:c.940-89T=	NP_001369638.1:n.940-89T=
NM_001382710.1:c.1303-89T=	NP_001369639.1:n.1303-89T=
NM_001382711.1:c.1351-89T=	NP_001369640.1:n.1351-89T=
NM_001382712.1:c.1371+115T=	NP_001369641.1:n.1371+115T=
NM_001382713.1:c.1102-89T=	NP_001369642.1:n.1102-89T=