Canonical Allele Identifier: CA1329211335

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421521T= , CM000664.2:g.219421521T=	GRCh38
NC_000002.11:g.220286243T= , CM000664.1:g.220286243T=	GRCh37
NC_000002.10:g.219994487T=	NCBI36
NG_008043.1:g.8145T= , LRG_380:g.8145T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.679T=
ENST00000683013.1:n.593T=
ENST00000373960.4:c.1205T= MANE Select	ENSP00000363071.3:p.Ile402=
ENST00000373960.3:c.1205T=	ENSP00000363071.3:p.Ile402=
ENST00000477226.5:n.677T=
ENST00000492726.1:n.600T=
NM_001927.3:c.1205T= , LRG_380t1:c.1205T=	NP_001918.3:p.Ile402=
NM_001927.4:c.1205T= MANE Select	NP_001918.3:p.Ile402=
NM_001382708.1:c.1202T=	NP_001369637.1:p.Ile401=
NM_001382709.1:c.773T=	NP_001369638.1:p.Ile258=
NM_001382710.1:c.1136T=	NP_001369639.1:p.Ile379=
NM_001382711.1:c.1184T=	NP_001369640.1:p.Ile395=
NM_001382712.1:c.1205T=	NP_001369641.1:p.Ile402=
NM_001382713.1:c.935T=	NP_001369642.1:p.Ile312=