Canonical Allele Identifier: CA1329210906

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420599G= , CM000664.2:g.219420599G=	GRCh38
NC_000002.11:g.220285321G= , CM000664.1:g.220285321G=	GRCh37
NC_000002.10:g.219993565G=	NCBI36
NG_008043.1:g.7223G= , LRG_380:g.7223G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.314G=
ENST00000683013.1:n.228G=
ENST00000373960.4:c.840G= MANE Select	ENSP00000363071.3:p.Gln280=
ENST00000373960.3:c.840G=	ENSP00000363071.3:p.Gln280=
ENST00000477226.5:n.312G=
ENST00000492726.1:n.235G=
NM_001927.3:c.840G= , LRG_380t1:c.840G=	NP_001918.3:p.Gln280=
NM_001927.4:c.840G= MANE Select	NP_001918.3:p.Gln280=
NM_001382708.1:c.837G=	NP_001369637.1:p.Gln279=
NM_001382709.1:c.735+253G=	NP_001369638.1:n.735+253G=
NM_001382710.1:c.840G=	NP_001369639.1:p.Gln280=
NM_001382711.1:c.840G=	NP_001369640.1:p.Gln280=
NM_001382712.1:c.840G=	NP_001369641.1:p.Gln280=
NM_001382713.1:c.570G=	NP_001369642.1:p.Gln190=