Canonical Allele Identifier: CA2125285

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219423818G>A , CM000664.2:g.219423818G>A	GRCh38
NC_000002.11:g.220288540G>A , CM000664.1:g.220288540G>A	GRCh37
NC_000002.10:g.219996784G>A	NCBI36
NG_008043.1:g.10442G>A , LRG_380:g.10442G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001927.4:c.1286G>A MANE Select	NP_001918.3:p.Arg429Gln
ENST00000373960.4:c.1286G>A MANE Select	ENSP00000363071.3:p.Arg429Gln
NM_001382708.1:c.1283G>A	NP_001369637.1:p.Arg428Gln
NM_001382709.1:c.854G>A	NP_001369638.1:p.Arg285Gln
NM_001382710.1:c.1217G>A	NP_001369639.1:p.Arg406Gln
NM_001382711.1:c.1265G>A	NP_001369640.1:p.Arg422Gln
NM_001382712.1:c.1286G>A	NP_001369641.1:p.Arg429Gln
NM_001382713.1:c.1016G>A	NP_001369642.1:p.Arg339Gln
NM_001927.3:c.1286G>A , LRG_380t1:c.1286G>A	NP_001918.3:p.Arg429Gln
ENST00000373960.3:c.1286G>A	ENSP00000363071.3:p.Arg429Gln
ENST00000477226.5:n.758G>A
ENST00000477226.6:n.760G>A
ENST00000492726.1:n.681G>A
ENST00000683013.1:n.674G>A