Canonical Allele Identifier: CA2125233

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421379C>T , CM000664.2:g.219421379C>T	GRCh38
NC_000002.11:g.220286101C>T , CM000664.1:g.220286101C>T	GRCh37
NC_000002.10:g.219994345C>T	NCBI36
NG_008043.1:g.8003C>T , LRG_380:g.8003C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001927.4:c.1063C>T MANE Select	NP_001918.3:p.Arg355Ter
ENST00000373960.4:c.1063C>T MANE Select	ENSP00000363071.3:p.Arg355Ter
NM_001382708.1:c.1060C>T	NP_001369637.1:p.Arg354Ter
NM_001382709.1:c.736-105C>T	NP_001369638.1:n.736-105C>T
NM_001382710.1:c.1024-30C>T	NP_001369639.1:n.1024-30C>T
NM_001382711.1:c.1042C>T	NP_001369640.1:p.Arg348Ter
NM_001382712.1:c.1063C>T	NP_001369641.1:p.Arg355Ter
NM_001382713.1:c.793C>T	NP_001369642.1:p.Arg265Ter
NM_001927.3:c.1063C>T , LRG_380t1:c.1063C>T	NP_001918.3:p.Arg355Ter
ENST00000373960.3:c.1063C>T	ENSP00000363071.3:p.Arg355Ter
ENST00000477226.5:n.535C>T
ENST00000477226.6:n.537C>T
ENST00000492726.1:n.458C>T
ENST00000683013.1:n.451C>T