Canonical Allele Identifier: CA350682745
Gene: DES HGNC NCBI

Linked Data

ClinVar Variation Id: 1012337
dbSNP Id: rs1954361986

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219418545C>T , CM000664.2:g.219418545C>T GRCh38
NC_000002.11:g.220283267C>T , CM000664.1:g.220283267C>T GRCh37
NC_000002.10:g.219991511C>T NCBI36
NG_008043.1:g.5169C>T , LRG_380:g.5169C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373960.4:c.83C>T MANE Select ENSP00000363071.3:p.Ser28Phe
ENST00000373960.3:c.83C>T ENSP00000363071.3:p.Ser28Phe
NM_001927.3:c.83C>T , LRG_380t1:c.83C>T NP_001918.3:p.Ser28Phe
NM_001927.4:c.83C>T MANE Select NP_001918.3:p.Ser28Phe
NM_001382708.1:c.83C>T NP_001369637.1:p.Ser28Phe
NM_001382709.1:c.83C>T NP_001369638.1:p.Ser28Phe
NM_001382710.1:c.83C>T NP_001369639.1:p.Ser28Phe
NM_001382711.1:c.83C>T NP_001369640.1:p.Ser28Phe
NM_001382712.1:c.83C>T NP_001369641.1:p.Ser28Phe
NM_001382713.1:c.83C>T NP_001369642.1:p.Ser28Phe