Canonical Allele Identifier: CA65987360

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219426102C>G , CM000664.2:g.219426102C>G	GRCh38
NC_000002.11:g.220290824C>G , CM000664.1:g.220290824C>G	GRCh37
NC_000002.10:g.219999068C>G	NCBI36
NG_008043.1:g.12726C>G , LRG_380:g.12726C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001927.4:c.*112C>G MANE Select	NP_001918.3:n.*112C>G
ENST00000373960.4:c.*112C>G MANE Select	ENSP00000363071.3:n.*112C>G
NM_001382708.1:c.*112C>G	NP_001369637.1:n.*112C>G
NM_001382709.1:c.*112C>G	NP_001369638.1:n.*112C>G
NM_001382710.1:c.*112C>G	NP_001369639.1:n.*112C>G
NM_001382711.1:c.*112C>G	NP_001369640.1:n.*112C>G
NM_001382712.1:c.1371+357C>G	NP_001369641.1:n.1371+357C>G
NM_001382713.1:c.*112C>G	NP_001369642.1:n.*112C>G
NM_001927.3:c.*112C>G , LRG_380t1:c.*112C>G	NP_001918.3:n.*112C>G
ENST00000373960.3:c.*112C>G	ENSP00000363071.3:n.*112C>G
ENST00000477226.6:n.999C>G
ENST00000483395.1:n.380C>G
ENST00000683013.1:n.913C>G