Canonical Allele Identifier: CA2125071
Gene: DES HGNC NCBI

Linked Data

ClinVar Variation Id: 565920
ClinVar RCV Id: RCV000685600
dbSNP Id: rs755106109

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219418923T>A , CM000664.2:g.219418923T>A GRCh38
NC_000002.11:g.220283645T>A , CM000664.1:g.220283645T>A GRCh37
NC_000002.10:g.219991889T>A NCBI36
NG_008043.1:g.5547T>A , LRG_380:g.5547T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373960.4:c.461T>A MANE Select ENSP00000363071.3:p.Leu154His
ENST00000373960.3:c.461T>A ENSP00000363071.3:p.Leu154His
NM_001927.3:c.461T>A , LRG_380t1:c.461T>A NP_001918.3:p.Leu154His
NM_001927.4:c.461T>A MANE Select NP_001918.3:p.Leu154His
NM_001382708.1:c.461T>A NP_001369637.1:p.Leu154His
NM_001382709.1:c.461T>A NP_001369638.1:p.Leu154His
NM_001382710.1:c.461T>A NP_001369639.1:p.Leu154His
NM_001382711.1:c.461T>A NP_001369640.1:p.Leu154His
NM_001382712.1:c.461T>A NP_001369641.1:p.Leu154His
NM_001382713.1:c.461T>A NP_001369642.1:p.Leu154His