Canonical Allele Identifier: CA2573135391

Gene: DES

Linked Data

• ClinVar Variation Id: 1617731
• ClinVar RCV Id: RCV002079469
• dbSNP Id: rs2125171911

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425644G>T , CM000664.2:g.219425644G>T	GRCh38
NC_000002.11:g.220290366G>T , CM000664.1:g.220290366G>T	GRCh37
NC_000002.10:g.219998610G>T	NCBI36
NG_008043.1:g.12268G>T , LRG_380:g.12268G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.763-19G>T
ENST00000683013.1:n.677-19G>T
ENST00000373960.4:c.1289-19G>T MANE Select	ENSP00000363071.3:n.1289-19G>T
ENST00000373960.3:c.1289-19G>T	ENSP00000363071.3:n.1289-19G>T
ENST00000483395.1:n.125G>T
NM_001927.3:c.1289-19G>T , LRG_380t1:c.1289-19G>T	NP_001918.3:n.1289-19G>T
NM_001927.4:c.1289-19G>T MANE Select	NP_001918.3:n.1289-19G>T
NM_001382708.1:c.1286-19G>T	NP_001369637.1:n.1286-19G>T
NM_001382709.1:c.857-19G>T	NP_001369638.1:n.857-19G>T
NM_001382710.1:c.1220-19G>T	NP_001369639.1:n.1220-19G>T
NM_001382711.1:c.1268-19G>T	NP_001369640.1:n.1268-19G>T
NM_001382712.1:c.1289-19G>T	NP_001369641.1:n.1289-19G>T
NM_001382713.1:c.1019-19G>T	NP_001369642.1:n.1019-19G>T