Canonical Allele Identifier: CA1329210127

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418982G= , CM000664.2:g.219418982G=	GRCh38
NC_000002.11:g.220283704G= , CM000664.1:g.220283704G=	GRCh37
NC_000002.10:g.219991948G=	NCBI36
NG_008043.1:g.5606G= , LRG_380:g.5606G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.520G= MANE Select	ENSP00000363071.3:p.Ala174=
ENST00000373960.3:c.520G=	ENSP00000363071.3:p.Ala174=
NM_001927.3:c.520G= , LRG_380t1:c.520G=	NP_001918.3:p.Ala174=
NM_001927.4:c.520G= MANE Select	NP_001918.3:p.Ala174=
NM_001382708.1:c.520G=	NP_001369637.1:p.Ala174=
NM_001382709.1:c.520G=	NP_001369638.1:p.Ala174=
NM_001382710.1:c.520G=	NP_001369639.1:p.Ala174=
NM_001382711.1:c.520G=	NP_001369640.1:p.Ala174=
NM_001382712.1:c.520G=	NP_001369641.1:p.Ala174=
NM_001382713.1:c.495+25G=	NP_001369642.1:n.495+25G=