Canonical Allele Identifier: CA2663253468

Gene: DES

Linked Data

• gnomAD v4: 2-219426320-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219426320T>A , CM000664.2:g.219426320T>A	GRCh38
NC_000002.11:g.220291042T>A , CM000664.1:g.220291042T>A	GRCh37
NC_000002.10:g.219999286T>A	NCBI36
NG_008043.1:g.12944T>A , LRG_380:g.12944T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.1217T>A
ENST00000683013.1:n.1131T>A
ENST00000373960.4:c.*330T>A MANE Select	ENSP00000363071.3:n.*330T>A
ENST00000373960.3:c.*330T>A	ENSP00000363071.3:n.*330T>A
NM_001927.3:c.*330T>A , LRG_380t1:c.*330T>A	NP_001918.3:n.*330T>A
NM_001927.4:c.*330T>A MANE Select	NP_001918.3:n.*330T>A
NM_001382708.1:c.*330T>A	NP_001369637.1:n.*330T>A
NM_001382709.1:c.*330T>A	NP_001369638.1:n.*330T>A
NM_001382710.1:c.*330T>A	NP_001369639.1:n.*330T>A
NM_001382711.1:c.*330T>A	NP_001369640.1:n.*330T>A
NM_001382712.1:c.1372-233T>A	NP_001369641.1:n.1372-233T>A
NM_001382713.1:c.*330T>A	NP_001369642.1:n.*330T>A