Canonical Allele Identifier: CA350694256

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421421C>T , CM000664.2:g.219421421C>T	GRCh38
NC_000002.11:g.220286143C>T , CM000664.1:g.220286143C>T	GRCh37
NC_000002.10:g.219994387C>T	NCBI36
NG_008043.1:g.8045C>T , LRG_380:g.8045C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001927.4:c.1105C>T MANE Select	NP_001918.3:p.Arg369Cys
ENST00000373960.4:c.1105C>T MANE Select	ENSP00000363071.3:p.Arg369Cys
NM_001382708.1:c.1102C>T	NP_001369637.1:p.Arg368Cys
NM_001382709.1:c.736-63C>T	NP_001369638.1:n.736-63C>T
NM_001382710.1:c.1036C>T	NP_001369639.1:p.Arg346Cys
NM_001382711.1:c.1084C>T	NP_001369640.1:p.Arg362Cys
NM_001382712.1:c.1105C>T	NP_001369641.1:p.Arg369Cys
NM_001382713.1:c.835C>T	NP_001369642.1:p.Arg279Cys
NM_001927.3:c.1105C>T , LRG_380t1:c.1105C>T	NP_001918.3:p.Arg369Cys
ENST00000373960.3:c.1105C>T	ENSP00000363071.3:p.Arg369Cys
ENST00000477226.5:n.577C>T
ENST00000477226.6:n.579C>T
ENST00000492726.1:n.500C>T
ENST00000683013.1:n.493C>T