Canonical Allele Identifier: CA1329211271
Gene: DES HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219421415A= , CM000664.2:g.219421415A= GRCh38
NC_000002.11:g.220286137A= , CM000664.1:g.220286137A= GRCh37
NC_000002.10:g.219994381A= NCBI36
NG_008043.1:g.8039A= , LRG_380:g.8039A=

Transcript Alleles

HGVS Amino-acid change
ENST00000477226.6:n.573A=
ENST00000683013.1:n.487A=
ENST00000373960.4:c.1099A= MANE Select ENSP00000363071.3:p.Ile367=
ENST00000373960.3:c.1099A= ENSP00000363071.3:p.Ile367=
ENST00000477226.5:n.571A=
ENST00000492726.1:n.494A=
NM_001927.3:c.1099A= , LRG_380t1:c.1099A= NP_001918.3:p.Ile367=
NM_001927.4:c.1099A= MANE Select NP_001918.3:p.Ile367=
NM_001382708.1:c.1096A= NP_001369637.1:p.Ile366=
NM_001382709.1:c.736-69A= NP_001369638.1:n.736-69A=
NM_001382710.1:c.1030A= NP_001369639.1:p.Ile344=
NM_001382711.1:c.1078A= NP_001369640.1:p.Ile360=
NM_001382712.1:c.1099A= NP_001369641.1:p.Ile367=
NM_001382713.1:c.829A= NP_001369642.1:p.Ile277=