Canonical Allele Identifier: CA1329211055

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420939G= , CM000664.2:g.219420939G=	GRCh38
NC_000002.11:g.220285661G= , CM000664.1:g.220285661G=	GRCh37
NC_000002.10:g.219993905G=	NCBI36
NG_008043.1:g.7563G= , LRG_380:g.7563G=

Transcript Alleles

HGVS	Amino-acid Change
NM_001927.4:c.1009G= MANE Select	NP_001918.3:p.Ala337=
ENST00000373960.4:c.1009G= MANE Select	ENSP00000363071.3:p.Ala337=
NM_001382708.1:c.1006G=	NP_001369637.1:p.Ala336=
NM_001382709.1:c.736-545G=	NP_001369638.1:n.736-545G=
NM_001382710.1:c.1009G=	NP_001369639.1:p.Ala337=
NM_001382711.1:c.1009G=	NP_001369640.1:p.Ala337=
NM_001382712.1:c.1009G=	NP_001369641.1:p.Ala337=
NM_001382713.1:c.739G=	NP_001369642.1:p.Ala247=
NM_001927.3:c.1009G= , LRG_380t1:c.1009G=	NP_001918.3:p.Ala337=
ENST00000373960.3:c.1009G=	ENSP00000363071.3:p.Ala337=
ENST00000477226.5:n.481G=
ENST00000477226.6:n.483G=
ENST00000492726.1:n.404G=
ENST00000683013.1:n.397G=