Canonical Allele Identifier: CA1329211272
Gene: DES HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219421416T= , CM000664.2:g.219421416T= GRCh38
NC_000002.11:g.220286138T= , CM000664.1:g.220286138T= GRCh37
NC_000002.10:g.219994382T= NCBI36
NG_008043.1:g.8040T= , LRG_380:g.8040T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000477226.6:n.574T=
ENST00000683013.1:n.488T=
ENST00000373960.4:c.1100T= MANE Select ENSP00000363071.3:p.Ile367=
ENST00000373960.3:c.1100T= ENSP00000363071.3:p.Ile367=
ENST00000477226.5:n.572T=
ENST00000492726.1:n.495T=
NM_001927.3:c.1100T= , LRG_380t1:c.1100T= NP_001918.3:p.Ile367=
NM_001927.4:c.1100T= MANE Select NP_001918.3:p.Ile367=
NM_001382708.1:c.1097T= NP_001369637.1:p.Ile366=
NM_001382709.1:c.736-68T= NP_001369638.1:n.736-68T=
NM_001382710.1:c.1031T= NP_001369639.1:p.Ile344=
NM_001382711.1:c.1079T= NP_001369640.1:p.Ile360=
NM_001382712.1:c.1100T= NP_001369641.1:p.Ile367=
NM_001382713.1:c.830T= NP_001369642.1:p.Ile277=