Canonical Allele Identifier: CA10606731

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420527A>G , CM000664.2:g.219420527A>G	GRCh38
NC_000002.11:g.220285249A>G , CM000664.1:g.220285249A>G	GRCh37
NC_000002.10:g.219993493A>G	NCBI36
NG_008043.1:g.7151A>G , LRG_380:g.7151A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001927.4:c.768A>G MANE Select	NP_001918.3:p.Glu256=
ENST00000373960.4:c.768A>G MANE Select	ENSP00000363071.3:p.Glu256=
NM_001382708.1:c.765A>G	NP_001369637.1:p.Glu255=
NM_001382709.1:c.735+181A>G	NP_001369638.1:n.735+181A>G
NM_001382710.1:c.768A>G	NP_001369639.1:p.Glu256=
NM_001382711.1:c.768A>G	NP_001369640.1:p.Glu256=
NM_001382712.1:c.768A>G	NP_001369641.1:p.Glu256=
NM_001382713.1:c.498A>G	NP_001369642.1:p.Glu166=
NM_001927.3:c.768A>G , LRG_380t1:c.768A>G	NP_001918.3:p.Glu256=
ENST00000373960.3:c.768A>G	ENSP00000363071.3:p.Glu256=
ENST00000477226.5:n.240A>G
ENST00000477226.6:n.242A>G
ENST00000492726.1:n.163A>G
ENST00000683013.1:n.156A>G