Canonical Allele Identifier: CA1329209886
Gene: DES HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219418606G= , CM000664.2:g.219418606G= GRCh38
NC_000002.11:g.220283328G= , CM000664.1:g.220283328G= GRCh37
NC_000002.10:g.219991572G= NCBI36
NG_008043.1:g.5230G= , LRG_380:g.5230G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000373960.4:c.144G= MANE Select ENSP00000363071.3:p.Ser48=
ENST00000373960.3:c.144G= ENSP00000363071.3:p.Ser48=
NM_001927.3:c.144G= , LRG_380t1:c.144G= NP_001918.3:p.Ser48=
NM_001927.4:c.144G= MANE Select NP_001918.3:p.Ser48=
NM_001382708.1:c.144G= NP_001369637.1:p.Ser48=
NM_001382709.1:c.144G= NP_001369638.1:p.Ser48=
NM_001382710.1:c.144G= NP_001369639.1:p.Ser48=
NM_001382711.1:c.144G= NP_001369640.1:p.Ser48=
NM_001382712.1:c.144G= NP_001369641.1:p.Ser48=
NM_001382713.1:c.144G= NP_001369642.1:p.Ser48=