Canonical Allele Identifier: CA1329211344

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421540G= , CM000664.2:g.219421540G=	GRCh38
NC_000002.11:g.220286262G= , CM000664.1:g.220286262G=	GRCh37
NC_000002.10:g.219994506G=	NCBI36
NG_008043.1:g.8164G= , LRG_380:g.8164G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.698G=
ENST00000683013.1:n.612G=
ENST00000373960.4:c.1224G= MANE Select	ENSP00000363071.3:p.Leu408=
ENST00000373960.3:c.1224G=	ENSP00000363071.3:p.Leu408=
ENST00000477226.5:n.696G=
ENST00000492726.1:n.619G=
NM_001927.3:c.1224G= , LRG_380t1:c.1224G=	NP_001918.3:p.Leu408=
NM_001927.4:c.1224G= MANE Select	NP_001918.3:p.Leu408=
NM_001382708.1:c.1221G=	NP_001369637.1:p.Leu407=
NM_001382709.1:c.792G=	NP_001369638.1:p.Leu264=
NM_001382710.1:c.1155G=	NP_001369639.1:p.Leu385=
NM_001382711.1:c.1203G=	NP_001369640.1:p.Leu401=
NM_001382712.1:c.1224G=	NP_001369641.1:p.Leu408=
NM_001382713.1:c.954G=	NP_001369642.1:p.Leu318=