Canonical Allele Identifier: CA350694194
Gene: DES HGNC NCBI

Linked Data

ClinVar Variation Id: 2925199
dbSNP Id: rs1472005530

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219421413A>G , CM000664.2:g.219421413A>G GRCh38
NC_000002.11:g.220286135A>G , CM000664.1:g.220286135A>G GRCh37
NC_000002.10:g.219994379A>G NCBI36
NG_008043.1:g.8037A>G , LRG_380:g.8037A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000477226.6:n.571A>G
ENST00000683013.1:n.485A>G
ENST00000373960.4:c.1097A>G MANE Select ENSP00000363071.3:p.Asn366Ser
ENST00000373960.3:c.1097A>G ENSP00000363071.3:p.Asn366Ser
ENST00000477226.5:n.569A>G
ENST00000492726.1:n.492A>G
NM_001927.3:c.1097A>G , LRG_380t1:c.1097A>G NP_001918.3:p.Asn366Ser
NM_001927.4:c.1097A>G MANE Select NP_001918.3:p.Asn366Ser
NM_001382708.1:c.1094A>G NP_001369637.1:p.Asn365Ser
NM_001382709.1:c.736-71A>G NP_001369638.1:n.736-71A>G
NM_001382710.1:c.1028A>G NP_001369639.1:p.Asn343Ser
NM_001382711.1:c.1076A>G NP_001369640.1:p.Asn359Ser
NM_001382712.1:c.1097A>G NP_001369641.1:p.Asn366Ser
NM_001382713.1:c.827A>G NP_001369642.1:p.Asn276Ser