Canonical Allele Identifier: CA431428180

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420929C>T , CM000664.2:g.219420929C>T	GRCh38
NC_000002.11:g.220285651C>T , CM000664.1:g.220285651C>T	GRCh37
NC_000002.10:g.219993895C>T	NCBI36
NG_008043.1:g.7553C>T , LRG_380:g.7553C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001927.4:c.999C>T MANE Select	NP_001918.3:p.Cys333=
ENST00000373960.4:c.999C>T MANE Select	ENSP00000363071.3:p.Cys333=
NM_001382708.1:c.996C>T	NP_001369637.1:p.Cys332=
NM_001382709.1:c.736-555C>T	NP_001369638.1:n.736-555C>T
NM_001382710.1:c.999C>T	NP_001369639.1:p.Cys333=
NM_001382711.1:c.999C>T	NP_001369640.1:p.Cys333=
NM_001382712.1:c.999C>T	NP_001369641.1:p.Cys333=
NM_001382713.1:c.729C>T	NP_001369642.1:p.Cys243=
NM_001927.3:c.999C>T , LRG_380t1:c.999C>T	NP_001918.3:p.Cys333=
ENST00000373960.3:c.999C>T	ENSP00000363071.3:p.Cys333=
ENST00000477226.5:n.471C>T
ENST00000477226.6:n.473C>T
ENST00000492726.1:n.394C>T
ENST00000683013.1:n.387C>T