Canonical Allele Identifier: CA181192

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420276G>A , CM000664.2:g.219420276G>A	GRCh38
NC_000002.11:g.220284998G>A , CM000664.1:g.220284998G>A	GRCh37
NC_000002.10:g.219993242G>A	NCBI36
NG_008043.1:g.6900G>A , LRG_380:g.6900G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.139G>A
ENST00000683013.1:n.53G>A
ENST00000373960.4:c.665G>A MANE Select	ENSP00000363071.3:p.Arg222His
ENST00000373960.3:c.665G>A	ENSP00000363071.3:p.Arg222His
ENST00000477226.5:n.137G>A
ENST00000492726.1:n.60G>A
NM_001927.3:c.665G>A , LRG_380t1:c.665G>A	NP_001918.3:p.Arg222His
NM_001927.4:c.665G>A MANE Select	NP_001918.3:p.Arg222His
NM_001382708.1:c.662G>A	NP_001369637.1:p.Arg221His
NM_001382709.1:c.665G>A	NP_001369638.1:p.Arg222His
NM_001382710.1:c.665G>A	NP_001369639.1:p.Arg222His
NM_001382711.1:c.665G>A	NP_001369640.1:p.Arg222His
NM_001382712.1:c.665G>A	NP_001369641.1:p.Arg222His
NM_001382713.1:c.496-249G>A	NP_001369642.1:n.496-249G>A