Canonical Allele Identifier: CA1329213230
Gene: DES HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219425956G= , CM000664.2:g.219425956G= GRCh38
NC_000002.11:g.220290678G= , CM000664.1:g.220290678G= GRCh37
NC_000002.10:g.219998922G= NCBI36
NG_008043.1:g.12580G= , LRG_380:g.12580G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000477226.6:n.853G=
ENST00000683013.1:n.767G=
ENST00000373960.4:c.1379G= MANE Select ENSP00000363071.3:p.Ser460=
ENST00000373960.3:c.1379G= ENSP00000363071.3:p.Ser460=
ENST00000483395.1:n.234G=
NM_001927.3:c.1379G= , LRG_380t1:c.1379G= NP_001918.3:p.Ser460=
NM_001927.4:c.1379G= MANE Select NP_001918.3:p.Ser460=
NM_001382708.1:c.1376G= NP_001369637.1:p.Ser459=
NM_001382709.1:c.947G= NP_001369638.1:p.Ser316=
NM_001382710.1:c.1310G= NP_001369639.1:p.Ser437=
NM_001382711.1:c.1358G= NP_001369640.1:p.Ser453=
NM_001382712.1:c.1371+211G= NP_001369641.1:n.1371+211G=
NM_001382713.1:c.1109G= NP_001369642.1:p.Ser370=