Canonical Allele Identifier: CA1329211279

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421425T= , CM000664.2:g.219421425T=	GRCh38
NC_000002.11:g.220286147T= , CM000664.1:g.220286147T=	GRCh37
NC_000002.10:g.219994391T=	NCBI36
NG_008043.1:g.8049T= , LRG_380:g.8049T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.583T=
ENST00000683013.1:n.497T=
ENST00000373960.4:c.1109T= MANE Select	ENSP00000363071.3:p.Leu370=
ENST00000373960.3:c.1109T=	ENSP00000363071.3:p.Leu370=
ENST00000477226.5:n.581T=
ENST00000492726.1:n.504T=
NM_001927.3:c.1109T= , LRG_380t1:c.1109T=	NP_001918.3:p.Leu370=
NM_001927.4:c.1109T= MANE Select	NP_001918.3:p.Leu370=
NM_001382708.1:c.1106T=	NP_001369637.1:p.Leu369=
NM_001382709.1:c.736-59T=	NP_001369638.1:n.736-59T=
NM_001382710.1:c.1040T=	NP_001369639.1:p.Leu347=
NM_001382711.1:c.1088T=	NP_001369640.1:p.Leu363=
NM_001382712.1:c.1109T=	NP_001369641.1:p.Leu370=
NM_001382713.1:c.839T=	NP_001369642.1:p.Leu280=