Canonical Allele Identifier: CA2125125

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420290C>T , CM000664.2:g.219420290C>T	GRCh38
NC_000002.11:g.220285012C>T , CM000664.1:g.220285012C>T	GRCh37
NC_000002.10:g.219993256C>T	NCBI36
NG_008043.1:g.6914C>T , LRG_380:g.6914C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001927.4:c.679C>T MANE Select	NP_001918.3:p.Arg227Cys
ENST00000373960.4:c.679C>T MANE Select	ENSP00000363071.3:p.Arg227Cys
NM_001382708.1:c.676C>T	NP_001369637.1:p.Arg226Cys
NM_001382709.1:c.679C>T	NP_001369638.1:p.Arg227Cys
NM_001382710.1:c.679C>T	NP_001369639.1:p.Arg227Cys
NM_001382711.1:c.679C>T	NP_001369640.1:p.Arg227Cys
NM_001382712.1:c.679C>T	NP_001369641.1:p.Arg227Cys
NM_001382713.1:c.496-235C>T	NP_001369642.1:n.496-235C>T
NM_001927.3:c.679C>T , LRG_380t1:c.679C>T	NP_001918.3:p.Arg227Cys
ENST00000373960.3:c.679C>T	ENSP00000363071.3:p.Arg227Cys
ENST00000477226.5:n.151C>T
ENST00000477226.6:n.153C>T
ENST00000492726.1:n.74C>T
ENST00000683013.1:n.67C>T