Canonical Allele Identifier: CA1042514178

Gene: DES

Linked Data

• dbSNP Id: rs1954434938
• gnomAD v3: 2-219421237-G-A
• gnomAD v4: 2-219421237-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421237G>A , CM000664.2:g.219421237G>A	GRCh38
NC_000002.11:g.220285959G>A , CM000664.1:g.220285959G>A	GRCh37
NC_000002.10:g.219994203G>A	NCBI36
NG_008043.1:g.7861G>A , LRG_380:g.7861G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.498-103G>A
ENST00000683013.1:n.412-103G>A
ENST00000373960.4:c.1024-103G>A MANE Select	ENSP00000363071.3:n.1024-103G>A
ENST00000373960.3:c.1024-103G>A	ENSP00000363071.3:n.1024-103G>A
ENST00000477226.5:n.496-103G>A
ENST00000492726.1:n.419-103G>A
NM_001927.3:c.1024-103G>A , LRG_380t1:c.1024-103G>A	NP_001918.3:n.1024-103G>A
NM_001927.4:c.1024-103G>A MANE Select	NP_001918.3:n.1024-103G>A
NM_001382708.1:c.1021-103G>A	NP_001369637.1:n.1021-103G>A
NM_001382709.1:c.736-247G>A	NP_001369638.1:n.736-247G>A
NM_001382710.1:c.1024-172G>A	NP_001369639.1:n.1024-172G>A
NM_001382711.1:c.1024-124G>A	NP_001369640.1:n.1024-124G>A
NM_001382712.1:c.1024-103G>A	NP_001369641.1:n.1024-103G>A
NM_001382713.1:c.754-103G>A	NP_001369642.1:n.754-103G>A