Canonical Allele Identifier: CA1329211319

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421491T= , CM000664.2:g.219421491T=	GRCh38
NC_000002.11:g.220286213T= , CM000664.1:g.220286213T=	GRCh37
NC_000002.10:g.219994457T=	NCBI36
NG_008043.1:g.8115T= , LRG_380:g.8115T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.649T=
ENST00000683013.1:n.563T=
ENST00000373960.4:c.1175T= MANE Select	ENSP00000363071.3:p.Leu392=
ENST00000373960.3:c.1175T=	ENSP00000363071.3:p.Leu392=
ENST00000477226.5:n.647T=
ENST00000492726.1:n.570T=
NM_001927.3:c.1175T= , LRG_380t1:c.1175T=	NP_001918.3:p.Leu392=
NM_001927.4:c.1175T= MANE Select	NP_001918.3:p.Leu392=
NM_001382708.1:c.1172T=	NP_001369637.1:p.Leu391=
NM_001382709.1:c.743T=	NP_001369638.1:p.Leu248=
NM_001382710.1:c.1106T=	NP_001369639.1:p.Leu369=
NM_001382711.1:c.1154T=	NP_001369640.1:p.Leu385=
NM_001382712.1:c.1175T=	NP_001369641.1:p.Leu392=
NM_001382713.1:c.905T=	NP_001369642.1:p.Leu302=