Canonical Allele Identifier: CA1329213161

Gene: DES

Linked Data

• dbSNP Id: rs1954524917
• gnomAD v4: 2-219425796-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425796C>T , CM000664.2:g.219425796C>T	GRCh38
NC_000002.11:g.220290518C>T , CM000664.1:g.220290518C>T	GRCh37
NC_000002.10:g.219998762C>T	NCBI36
NG_008043.1:g.12420C>T , LRG_380:g.12420C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.845+51C>T
ENST00000683013.1:n.759+51C>T
ENST00000373960.4:c.1371+51C>T MANE Select	ENSP00000363071.3:n.1371+51C>T
ENST00000373960.3:c.1371+51C>T	ENSP00000363071.3:n.1371+51C>T
ENST00000483395.1:n.226+51C>T
NM_001927.3:c.1371+51C>T , LRG_380t1:c.1371+51C>T	NP_001918.3:n.1371+51C>T
NM_001927.4:c.1371+51C>T MANE Select	NP_001918.3:n.1371+51C>T
NM_001382708.1:c.1368+51C>T	NP_001369637.1:n.1368+51C>T
NM_001382709.1:c.939+51C>T	NP_001369638.1:n.939+51C>T
NM_001382710.1:c.1302+51C>T	NP_001369639.1:n.1302+51C>T
NM_001382711.1:c.1350+51C>T	NP_001369640.1:n.1350+51C>T
NM_001382712.1:c.1371+51C>T	NP_001369641.1:n.1371+51C>T
NM_001382713.1:c.1101+51C>T	NP_001369642.1:n.1101+51C>T