Canonical Allele Identifier: CA1042519927

Gene: DES

Linked Data

• dbSNP Id: rs1954355656
• gnomAD v3: 2-219418411-G-C
• gnomAD v4: 2-219418411-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418411G>C , CM000664.2:g.219418411G>C	GRCh38
NC_000002.11:g.220283133G>C , CM000664.1:g.220283133G>C	GRCh37
NC_000002.10:g.219991377G>C	NCBI36
NG_008043.1:g.5035G>C , LRG_380:g.5035G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.-52G>C MANE Select	ENSP00000363071.3:n.-52G>C
ENST00000373960.3:c.-52G>C	ENSP00000363071.3:n.-52G>C
NM_001927.3:c.-52G>C , LRG_380t1:c.-52G>C	NP_001918.3:n.-52G>C
NM_001927.4:c.-52G>C MANE Select	NP_001918.3:n.-52G>C
NM_001382708.1:c.-52G>C	NP_001369637.1:n.-52G>C
NM_001382709.1:c.-52G>C	NP_001369638.1:n.-52G>C
NM_001382710.1:c.-52G>C	NP_001369639.1:n.-52G>C
NM_001382711.1:c.-52G>C	NP_001369640.1:n.-52G>C
NM_001382712.1:c.-52G>C	NP_001369641.1:n.-52G>C
NM_001382713.1:c.-52G>C	NP_001369642.1:n.-52G>C