Canonical Allele Identifier: CA1329213240

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425985C= , CM000664.2:g.219425985C=	GRCh38
NC_000002.11:g.220290707C= , CM000664.1:g.220290707C=	GRCh37
NC_000002.10:g.219998951C=	NCBI36
NG_008043.1:g.12609C= , LRG_380:g.12609C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.882C=
ENST00000683013.1:n.796C=
ENST00000373960.4:c.1408C= MANE Select	ENSP00000363071.3:p.Leu470=
ENST00000373960.3:c.1408C=	ENSP00000363071.3:p.Leu470=
ENST00000483395.1:n.263C=
NM_001927.3:c.1408C= , LRG_380t1:c.1408C=	NP_001918.3:p.Leu470=
NM_001927.4:c.1408C= MANE Select	NP_001918.3:p.Leu470=
NM_001382708.1:c.1405C=	NP_001369637.1:p.Leu469=
NM_001382709.1:c.976C=	NP_001369638.1:p.Leu326=
NM_001382710.1:c.1339C=	NP_001369639.1:p.Leu447=
NM_001382711.1:c.1387C=	NP_001369640.1:p.Leu463=
NM_001382712.1:c.1371+240C=	NP_001369641.1:n.1371+240C=
NM_001382713.1:c.1138C=	NP_001369642.1:p.Leu380=