Canonical Allele Identifier: CA1329211323

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421496G= , CM000664.2:g.219421496G=	GRCh38
NC_000002.11:g.220286218G= , CM000664.1:g.220286218G=	GRCh37
NC_000002.10:g.219994462G=	NCBI36
NG_008043.1:g.8120G= , LRG_380:g.8120G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.654G=
ENST00000683013.1:n.568G=
ENST00000373960.4:c.1180G= MANE Select	ENSP00000363071.3:p.Val394=
ENST00000373960.3:c.1180G=	ENSP00000363071.3:p.Val394=
ENST00000477226.5:n.652G=
ENST00000492726.1:n.575G=
NM_001927.3:c.1180G= , LRG_380t1:c.1180G=	NP_001918.3:p.Val394=
NM_001927.4:c.1180G= MANE Select	NP_001918.3:p.Val394=
NM_001382708.1:c.1177G=	NP_001369637.1:p.Val393=
NM_001382709.1:c.748G=	NP_001369638.1:p.Val250=
NM_001382710.1:c.1111G=	NP_001369639.1:p.Val371=
NM_001382711.1:c.1159G=	NP_001369640.1:p.Val387=
NM_001382712.1:c.1180G=	NP_001369641.1:p.Val394=
NM_001382713.1:c.910G=	NP_001369642.1:p.Val304=