Canonical Allele Identifier: CA1329210230

Gene: DES

Linked Data

• dbSNP Id: rs1954387302
• gnomAD v4: 2-219419165-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219419165G>A , CM000664.2:g.219419165G>A	GRCh38
NC_000002.11:g.220283887G>A , CM000664.1:g.220283887G>A	GRCh37
NC_000002.10:g.219992131G>A	NCBI36
NG_008043.1:g.5789G>A , LRG_380:g.5789G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.578+125G>A MANE Select	ENSP00000363071.3:n.578+125G>A
ENST00000373960.3:c.578+125G>A	ENSP00000363071.3:n.578+125G>A
NM_001927.3:c.578+125G>A , LRG_380t1:c.578+125G>A	NP_001918.3:n.578+125G>A
NM_001927.4:c.578+125G>A MANE Select	NP_001918.3:n.578+125G>A
NM_001382708.1:c.578+125G>A	NP_001369637.1:n.578+125G>A
NM_001382709.1:c.578+125G>A	NP_001369638.1:n.578+125G>A
NM_001382710.1:c.578+125G>A	NP_001369639.1:n.578+125G>A
NM_001382711.1:c.578+125G>A	NP_001369640.1:n.578+125G>A
NM_001382712.1:c.578+125G>A	NP_001369641.1:n.578+125G>A
NM_001382713.1:c.495+208G>A	NP_001369642.1:n.495+208G>A