Canonical Allele Identifier: CA2125287

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219423821G>A , CM000664.2:g.219423821G>A	GRCh38
NC_000002.11:g.220288543G>A , CM000664.1:g.220288543G>A	GRCh37
NC_000002.10:g.219996787G>A	NCBI36
NG_008043.1:g.10445G>A , LRG_380:g.10445G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001927.4:c.1288+1G>A MANE Select	NP_001918.3:n.1288+1G>A
ENST00000373960.4:c.1288+1G>A MANE Select	ENSP00000363071.3:n.1288+1G>A
NM_001382708.1:c.1285+1G>A	NP_001369637.1:n.1285+1G>A
NM_001382709.1:c.856+1G>A	NP_001369638.1:n.856+1G>A
NM_001382710.1:c.1219+1G>A	NP_001369639.1:n.1219+1G>A
NM_001382711.1:c.1267+1G>A	NP_001369640.1:n.1267+1G>A
NM_001382712.1:c.1288+1G>A	NP_001369641.1:n.1288+1G>A
NM_001382713.1:c.1018+1G>A	NP_001369642.1:n.1018+1G>A
NM_001927.3:c.1288+1G>A , LRG_380t1:c.1288+1G>A	NP_001918.3:n.1288+1G>A
ENST00000373960.3:c.1288+1G>A	ENSP00000363071.3:n.1288+1G>A
ENST00000477226.6:n.762+1G>A
ENST00000492726.1:n.684G>A
ENST00000683013.1:n.676+1G>A