Canonical Allele Identifier: CA217093
Gene: DES HGNC NCBI

Linked Data

ClinVar Variation Id: 66423
dbSNP Id: rs62636491

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219420652C>T , CM000664.2:g.219420652C>T GRCh38
NC_000002.11:g.220285374C>T , CM000664.1:g.220285374C>T GRCh37
NC_000002.10:g.219993618C>T NCBI36
NG_008043.1:g.7276C>T , LRG_380:g.7276C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000477226.6:n.367C>T
ENST00000683013.1:n.281C>T
ENST00000373960.4:c.893C>T MANE Select ENSP00000363071.3:p.Ser298Leu
ENST00000373960.3:c.893C>T ENSP00000363071.3:p.Ser298Leu
ENST00000477226.5:n.365C>T
ENST00000492726.1:n.288C>T
NM_001927.3:c.893C>T , LRG_380t1:c.893C>T NP_001918.3:p.Ser298Leu
NM_001927.4:c.893C>T MANE Select NP_001918.3:p.Ser298Leu
NM_001382708.1:c.890C>T NP_001369637.1:p.Ser297Leu
NM_001382709.1:c.735+306C>T NP_001369638.1:n.735+306C>T
NM_001382710.1:c.893C>T NP_001369639.1:p.Ser298Leu
NM_001382711.1:c.893C>T NP_001369640.1:p.Ser298Leu
NM_001382712.1:c.893C>T NP_001369641.1:p.Ser298Leu
NM_001382713.1:c.623C>T NP_001369642.1:p.Ser208Leu