Canonical Allele Identifier: CA2573051864

Gene: DES

Linked Data

• ClinVar Variation Id: 1328040
• ClinVar RCV Id: RCV001794989 ; RCV001794990
• dbSNP Id: rs2125167702

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420360C>T , CM000664.2:g.219420360C>T	GRCh38
NC_000002.11:g.220285082C>T , CM000664.1:g.220285082C>T	GRCh37
NC_000002.10:g.219993326C>T	NCBI36
NG_008043.1:g.6984C>T , LRG_380:g.6984C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.209+14C>T
ENST00000683013.1:n.123+14C>T
ENST00000373960.4:c.735+14C>T MANE Select	ENSP00000363071.3:n.735+14C>T
ENST00000373960.3:c.735+14C>T	ENSP00000363071.3:n.735+14C>T
ENST00000477226.5:n.207+14C>T
ENST00000492726.1:n.130+14C>T
NM_001927.3:c.735+14C>T , LRG_380t1:c.735+14C>T	NP_001918.3:n.735+14C>T
NM_001927.4:c.735+14C>T MANE Select	NP_001918.3:n.735+14C>T
NM_001382708.1:c.732+14C>T	NP_001369637.1:n.732+14C>T
NM_001382709.1:c.735+14C>T	NP_001369638.1:n.735+14C>T
NM_001382710.1:c.735+14C>T	NP_001369639.1:n.735+14C>T
NM_001382711.1:c.735+14C>T	NP_001369640.1:n.735+14C>T
NM_001382712.1:c.735+14C>T	NP_001369641.1:n.735+14C>T
NM_001382713.1:c.496-165C>T	NP_001369642.1:n.496-165C>T