Canonical Allele Identifier: CA2663248304

Gene: DES

Linked Data

• gnomAD v4: 2-219419185-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219419185C>G , CM000664.2:g.219419185C>G	GRCh38
NC_000002.11:g.220283907C>G , CM000664.1:g.220283907C>G	GRCh37
NC_000002.10:g.219992151C>G	NCBI36
NG_008043.1:g.5809C>G , LRG_380:g.5809C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.578+145C>G MANE Select	ENSP00000363071.3:n.578+145C>G
ENST00000373960.3:c.578+145C>G	ENSP00000363071.3:n.578+145C>G
NM_001927.3:c.578+145C>G , LRG_380t1:c.578+145C>G	NP_001918.3:n.578+145C>G
NM_001927.4:c.578+145C>G MANE Select	NP_001918.3:n.578+145C>G
NM_001382708.1:c.578+145C>G	NP_001369637.1:n.578+145C>G
NM_001382709.1:c.578+145C>G	NP_001369638.1:n.578+145C>G
NM_001382710.1:c.578+145C>G	NP_001369639.1:n.578+145C>G
NM_001382711.1:c.578+145C>G	NP_001369640.1:n.578+145C>G
NM_001382712.1:c.578+145C>G	NP_001369641.1:n.578+145C>G
NM_001382713.1:c.495+228C>G	NP_001369642.1:n.495+228C>G