Canonical Allele Identifier: CA1329211351

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421552G= , CM000664.2:g.219421552G=	GRCh38
NC_000002.11:g.220286274G= , CM000664.1:g.220286274G=	GRCh37
NC_000002.10:g.219994518G=	NCBI36
NG_008043.1:g.8176G= , LRG_380:g.8176G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.710G=
ENST00000683013.1:n.624G=
ENST00000373960.4:c.1236G= MANE Select	ENSP00000363071.3:p.Glu412=
ENST00000373960.3:c.1236G=	ENSP00000363071.3:p.Glu412=
ENST00000477226.5:n.708G=
ENST00000492726.1:n.631G=
NM_001927.3:c.1236G= , LRG_380t1:c.1236G=	NP_001918.3:p.Glu412=
NM_001927.4:c.1236G= MANE Select	NP_001918.3:p.Glu412=
NM_001382708.1:c.1233G=	NP_001369637.1:p.Glu411=
NM_001382709.1:c.804G=	NP_001369638.1:p.Glu268=
NM_001382710.1:c.1167G=	NP_001369639.1:p.Glu389=
NM_001382711.1:c.1215G=	NP_001369640.1:p.Glu405=
NM_001382712.1:c.1236G=	NP_001369641.1:p.Glu412=
NM_001382713.1:c.966G=	NP_001369642.1:p.Glu322=