Canonical Allele Identifier: CA2125231

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421366G>A , CM000664.2:g.219421366G>A	GRCh38
NC_000002.11:g.220286088G>A , CM000664.1:g.220286088G>A	GRCh37
NC_000002.10:g.219994332G>A	NCBI36
NG_008043.1:g.7990G>A , LRG_380:g.7990G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001927.4:c.1050G>A MANE Select	NP_001918.3:p.Arg350=
ENST00000373960.4:c.1050G>A MANE Select	ENSP00000363071.3:p.Arg350=
NM_001382708.1:c.1047G>A	NP_001369637.1:p.Arg349=
NM_001382709.1:c.736-118G>A	NP_001369638.1:n.736-118G>A
NM_001382710.1:c.1024-43G>A	NP_001369639.1:n.1024-43G>A
NM_001382711.1:c.1029G>A	NP_001369640.1:p.Arg343=
NM_001382712.1:c.1050G>A	NP_001369641.1:p.Arg350=
NM_001382713.1:c.780G>A	NP_001369642.1:p.Arg260=
NM_001927.3:c.1050G>A , LRG_380t1:c.1050G>A	NP_001918.3:p.Arg350=
ENST00000373960.3:c.1050G>A	ENSP00000363071.3:p.Arg350=
ENST00000477226.5:n.522G>A
ENST00000477226.6:n.524G>A
ENST00000492726.1:n.445G>A
ENST00000683013.1:n.438G>A