Canonical Allele Identifier: CA2125158

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420576G>A , CM000664.2:g.219420576G>A	GRCh38
NC_000002.11:g.220285298G>A , CM000664.1:g.220285298G>A	GRCh37
NC_000002.10:g.219993542G>A	NCBI36
NG_008043.1:g.7200G>A , LRG_380:g.7200G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.291G>A
ENST00000683013.1:n.205G>A
ENST00000373960.4:c.817G>A MANE Select	ENSP00000363071.3:p.Ala273Thr
ENST00000373960.3:c.817G>A	ENSP00000363071.3:p.Ala273Thr
ENST00000477226.5:n.289G>A
ENST00000492726.1:n.212G>A
NM_001927.3:c.817G>A , LRG_380t1:c.817G>A	NP_001918.3:p.Ala273Thr
NM_001927.4:c.817G>A MANE Select	NP_001918.3:p.Ala273Thr
NM_001382708.1:c.814G>A	NP_001369637.1:p.Ala272Thr
NM_001382709.1:c.735+230G>A	NP_001369638.1:n.735+230G>A
NM_001382710.1:c.817G>A	NP_001369639.1:p.Ala273Thr
NM_001382711.1:c.817G>A	NP_001369640.1:p.Ala273Thr
NM_001382712.1:c.817G>A	NP_001369641.1:p.Ala273Thr
NM_001382713.1:c.547G>A	NP_001369642.1:p.Ala183Thr