Canonical Allele Identifier: CA2125328

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219426041C>A , CM000664.2:g.219426041C>A	GRCh38
NC_000002.11:g.220290763C>A , CM000664.1:g.220290763C>A	GRCh37
NC_000002.10:g.219999007C>A	NCBI36
NG_008043.1:g.12665C>A , LRG_380:g.12665C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001927.4:c.*51C>A MANE Select	NP_001918.3:n.*51C>A
ENST00000373960.4:c.*51C>A MANE Select	ENSP00000363071.3:n.*51C>A
NM_001382708.1:c.*51C>A	NP_001369637.1:n.*51C>A
NM_001382709.1:c.*51C>A	NP_001369638.1:n.*51C>A
NM_001382710.1:c.*51C>A	NP_001369639.1:n.*51C>A
NM_001382711.1:c.*51C>A	NP_001369640.1:n.*51C>A
NM_001382712.1:c.1371+296C>A	NP_001369641.1:n.1371+296C>A
NM_001382713.1:c.*51C>A	NP_001369642.1:n.*51C>A
NM_001927.3:c.*51C>A , LRG_380t1:c.*51C>A	NP_001918.3:n.*51C>A
ENST00000373960.3:c.*51C>A	ENSP00000363071.3:n.*51C>A
ENST00000477226.6:n.938C>A
ENST00000483395.1:n.319C>A
ENST00000683013.1:n.852C>A