Canonical Allele Identifier: CA2663252277

Gene: DES

Linked Data

• gnomAD v4: 2-219425875-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425875G>T , CM000664.2:g.219425875G>T	GRCh38
NC_000002.11:g.220290597G>T , CM000664.1:g.220290597G>T	GRCh37
NC_000002.10:g.219998841G>T	NCBI36
NG_008043.1:g.12499G>T , LRG_380:g.12499G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.846-74G>T
ENST00000683013.1:n.760-74G>T
ENST00000373960.4:c.1372-74G>T MANE Select	ENSP00000363071.3:n.1372-74G>T
ENST00000373960.3:c.1372-74G>T	ENSP00000363071.3:n.1372-74G>T
ENST00000483395.1:n.227-74G>T
NM_001927.3:c.1372-74G>T , LRG_380t1:c.1372-74G>T	NP_001918.3:n.1372-74G>T
NM_001927.4:c.1372-74G>T MANE Select	NP_001918.3:n.1372-74G>T
NM_001382708.1:c.1369-74G>T	NP_001369637.1:n.1369-74G>T
NM_001382709.1:c.940-74G>T	NP_001369638.1:n.940-74G>T
NM_001382710.1:c.1303-74G>T	NP_001369639.1:n.1303-74G>T
NM_001382711.1:c.1351-74G>T	NP_001369640.1:n.1351-74G>T
NM_001382712.1:c.1371+130G>T	NP_001369641.1:n.1371+130G>T
NM_001382713.1:c.1102-74G>T	NP_001369642.1:n.1102-74G>T