Canonical Allele Identifier: CA2573135384

Gene: DES

Linked Data

• ClinVar Variation Id: 1544988
• ClinVar RCV Id: RCV002165455
• dbSNP Id: rs1057520465

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420664G>T , CM000664.2:g.219420664G>T	GRCh38
NC_000002.11:g.220285386G>T , CM000664.1:g.220285386G>T	GRCh37
NC_000002.10:g.219993630G>T	NCBI36
NG_008043.1:g.7288G>T , LRG_380:g.7288G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.371+8G>T
ENST00000683013.1:n.285+8G>T
ENST00000373960.4:c.897+8G>T MANE Select	ENSP00000363071.3:n.897+8G>T
ENST00000373960.3:c.897+8G>T	ENSP00000363071.3:n.897+8G>T
ENST00000477226.5:n.369+8G>T
ENST00000492726.1:n.292+8G>T
NM_001927.3:c.897+8G>T , LRG_380t1:c.897+8G>T	NP_001918.3:n.897+8G>T
NM_001927.4:c.897+8G>T MANE Select	NP_001918.3:n.897+8G>T
NM_001382708.1:c.894+8G>T	NP_001369637.1:n.894+8G>T
NM_001382709.1:c.735+318G>T	NP_001369638.1:n.735+318G>T
NM_001382710.1:c.897+8G>T	NP_001369639.1:n.897+8G>T
NM_001382711.1:c.897+8G>T	NP_001369640.1:n.897+8G>T
NM_001382712.1:c.897+8G>T	NP_001369641.1:n.897+8G>T
NM_001382713.1:c.627+8G>T	NP_001369642.1:n.627+8G>T