Canonical Allele Identifier: CA1329210895
Gene: DES HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219420582A= , CM000664.2:g.219420582A= GRCh38
NC_000002.11:g.220285304A= , CM000664.1:g.220285304A= GRCh37
NC_000002.10:g.219993548A= NCBI36
NG_008043.1:g.7206A= , LRG_380:g.7206A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000477226.6:n.297A=
ENST00000683013.1:n.211A=
ENST00000373960.4:c.823A= MANE Select ENSP00000363071.3:p.Arg275=
ENST00000373960.3:c.823A= ENSP00000363071.3:p.Arg275=
ENST00000477226.5:n.295A=
ENST00000492726.1:n.218A=
NM_001927.3:c.823A= , LRG_380t1:c.823A= NP_001918.3:p.Arg275=
NM_001927.4:c.823A= MANE Select NP_001918.3:p.Arg275=
NM_001382708.1:c.820A= NP_001369637.1:p.Arg274=
NM_001382709.1:c.735+236A= NP_001369638.1:n.735+236A=
NM_001382710.1:c.823A= NP_001369639.1:p.Arg275=
NM_001382711.1:c.823A= NP_001369640.1:p.Arg275=
NM_001382712.1:c.823A= NP_001369641.1:p.Arg275=
NM_001382713.1:c.553A= NP_001369642.1:p.Arg185=