Canonical Allele Identifier: CA350699127
Gene: DES HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219425976C>A , CM000664.2:g.219425976C>A GRCh38
NC_000002.11:g.220290698C>A , CM000664.1:g.220290698C>A GRCh37
NC_000002.10:g.219998942C>A NCBI36
NG_008043.1:g.12600C>A , LRG_380:g.12600C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000477226.6:n.873C>A
ENST00000683013.1:n.787C>A
ENST00000373960.4:c.1399C>A MANE Select ENSP00000363071.3:p.His467Asn
ENST00000373960.3:c.1399C>A ENSP00000363071.3:p.His467Asn
ENST00000483395.1:n.254C>A
NM_001927.3:c.1399C>A , LRG_380t1:c.1399C>A NP_001918.3:p.His467Asn
NM_001927.4:c.1399C>A MANE Select NP_001918.3:p.His467Asn
NM_001382708.1:c.1396C>A NP_001369637.1:p.His466Asn
NM_001382709.1:c.967C>A NP_001369638.1:p.His323Asn
NM_001382710.1:c.1330C>A NP_001369639.1:p.His444Asn
NM_001382711.1:c.1378C>A NP_001369640.1:p.His460Asn
NM_001382712.1:c.1371+231C>A NP_001369641.1:n.1371+231C>A
NM_001382713.1:c.1129C>A NP_001369642.1:p.His377Asn