Canonical Allele Identifier: CA350686692
Gene: DES HGNC NCBI

Linked Data

ClinVar Variation Id: 813988
ClinVar RCV Id: RCV002265924
dbSNP Id: rs1575013470

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219418962A>G , CM000664.2:g.219418962A>G GRCh38
NC_000002.11:g.220283684A>G , CM000664.1:g.220283684A>G GRCh37
NC_000002.10:g.219991928A>G NCBI36
NG_008043.1:g.5586A>G , LRG_380:g.5586A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373960.4:c.500A>G MANE Select ENSP00000363071.3:p.Glu167Gly
ENST00000373960.3:c.500A>G ENSP00000363071.3:p.Glu167Gly
NM_001927.3:c.500A>G , LRG_380t1:c.500A>G NP_001918.3:p.Glu167Gly
NM_001927.4:c.500A>G MANE Select NP_001918.3:p.Glu167Gly
NM_001382708.1:c.500A>G NP_001369637.1:p.Glu167Gly
NM_001382709.1:c.500A>G NP_001369638.1:p.Glu167Gly
NM_001382710.1:c.500A>G NP_001369639.1:p.Glu167Gly
NM_001382711.1:c.500A>G NP_001369640.1:p.Glu167Gly
NM_001382712.1:c.500A>G NP_001369641.1:p.Glu167Gly
NM_001382713.1:c.495+5A>G NP_001369642.1:n.495+5A>G