Canonical Allele Identifier: CA350694961

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421519G>C , CM000664.2:g.219421519G>C	GRCh38
NC_000002.11:g.220286241G>C , CM000664.1:g.220286241G>C	GRCh37
NC_000002.10:g.219994485G>C	NCBI36
NG_008043.1:g.8143G>C , LRG_380:g.8143G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001927.4:c.1203G>C MANE Select	NP_001918.3:p.Glu401Asp
ENST00000373960.4:c.1203G>C MANE Select	ENSP00000363071.3:p.Glu401Asp
NM_001382708.1:c.1200G>C	NP_001369637.1:p.Glu400Asp
NM_001382709.1:c.771G>C	NP_001369638.1:p.Glu257Asp
NM_001382710.1:c.1134G>C	NP_001369639.1:p.Glu378Asp
NM_001382711.1:c.1182G>C	NP_001369640.1:p.Glu394Asp
NM_001382712.1:c.1203G>C	NP_001369641.1:p.Glu401Asp
NM_001382713.1:c.933G>C	NP_001369642.1:p.Glu311Asp
NM_001927.3:c.1203G>C , LRG_380t1:c.1203G>C	NP_001918.3:p.Glu401Asp
ENST00000373960.3:c.1203G>C	ENSP00000363071.3:p.Glu401Asp
ENST00000477226.5:n.675G>C
ENST00000477226.6:n.677G>C
ENST00000492726.1:n.598G>C
ENST00000683013.1:n.591G>C