Canonical Allele Identifier: CA2663253794

Gene: DES

Linked Data

• gnomAD v4: 2-219426420-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219426420C>A , CM000664.2:g.219426420C>A	GRCh38
NC_000002.11:g.220291142C>A , CM000664.1:g.220291142C>A	GRCh37
NC_000002.10:g.219999386C>A	NCBI36
NG_008043.1:g.13044C>A , LRG_380:g.13044C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.1317C>A
ENST00000683013.1:n.1231C>A
ENST00000373960.4:c.*430C>A MANE Select	ENSP00000363071.3:n.*430C>A
ENST00000373960.3:c.*430C>A	ENSP00000363071.3:n.*430C>A
NM_001927.3:c.*430C>A , LRG_380t1:c.*430C>A	NP_001918.3:n.*430C>A
NM_001927.4:c.*430C>A MANE Select	NP_001918.3:n.*430C>A
NM_001382708.1:c.*430C>A	NP_001369637.1:n.*430C>A
NM_001382709.1:c.*430C>A	NP_001369638.1:n.*430C>A
NM_001382710.1:c.*430C>A	NP_001369639.1:n.*430C>A
NM_001382711.1:c.*430C>A	NP_001369640.1:n.*430C>A
NM_001382712.1:c.1372-133C>A	NP_001369641.1:n.1372-133C>A
NM_001382713.1:c.*430C>A	NP_001369642.1:n.*430C>A