Canonical Allele Identifier: CA1329210867

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420521T= , CM000664.2:g.219420521T=	GRCh38
NC_000002.11:g.220285243T= , CM000664.1:g.220285243T=	GRCh37
NC_000002.10:g.219993487T=	NCBI36
NG_008043.1:g.7145T= , LRG_380:g.7145T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.236T=
ENST00000683013.1:n.150T=
ENST00000373960.4:c.762T= MANE Select	ENSP00000363071.3:p.Leu254=
ENST00000373960.3:c.762T=	ENSP00000363071.3:p.Leu254=
ENST00000477226.5:n.234T=
ENST00000492726.1:n.157T=
NM_001927.3:c.762T= , LRG_380t1:c.762T=	NP_001918.3:p.Leu254=
NM_001927.4:c.762T= MANE Select	NP_001918.3:p.Leu254=
NM_001382708.1:c.759T=	NP_001369637.1:p.Leu253=
NM_001382709.1:c.735+175T=	NP_001369638.1:n.735+175T=
NM_001382710.1:c.762T=	NP_001369639.1:p.Leu254=
NM_001382711.1:c.762T=	NP_001369640.1:p.Leu254=
NM_001382712.1:c.762T=	NP_001369641.1:p.Leu254=
NM_001382713.1:c.496-4T=	NP_001369642.1:n.496-4T=