Canonical Allele Identifier: CA217015
Gene: DES HGNC NCBI

Linked Data

ClinVar Variation Id: 66392
ClinVar RCV Id: RCV000056772
dbSNP Id: rs62636494

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219421415A>T , CM000664.2:g.219421415A>T GRCh38
NC_000002.11:g.220286137A>T , CM000664.1:g.220286137A>T GRCh37
NC_000002.10:g.219994381A>T NCBI36
NG_008043.1:g.8039A>T , LRG_380:g.8039A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000477226.6:n.573A>T
ENST00000683013.1:n.487A>T
ENST00000373960.4:c.1099A>T MANE Select ENSP00000363071.3:p.Ile367Phe
ENST00000373960.3:c.1099A>T ENSP00000363071.3:p.Ile367Phe
ENST00000477226.5:n.571A>T
ENST00000492726.1:n.494A>T
NM_001927.3:c.1099A>T , LRG_380t1:c.1099A>T NP_001918.3:p.Ile367Phe
NM_001927.4:c.1099A>T MANE Select NP_001918.3:p.Ile367Phe
NM_001382708.1:c.1096A>T NP_001369637.1:p.Ile366Phe
NM_001382709.1:c.736-69A>T NP_001369638.1:n.736-69A>T
NM_001382710.1:c.1030A>T NP_001369639.1:p.Ile344Phe
NM_001382711.1:c.1078A>T NP_001369640.1:p.Ile360Phe
NM_001382712.1:c.1099A>T NP_001369641.1:p.Ile367Phe
NM_001382713.1:c.829A>T NP_001369642.1:p.Ile277Phe