Canonical Allele Identifier: CA2663250321

Gene: DES

Linked Data

• gnomAD v4: 2-219421219-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421219G>T , CM000664.2:g.219421219G>T	GRCh38
NC_000002.11:g.220285941G>T , CM000664.1:g.220285941G>T	GRCh37
NC_000002.10:g.219994185G>T	NCBI36
NG_008043.1:g.7843G>T , LRG_380:g.7843G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.498-121G>T
ENST00000683013.1:n.412-121G>T
ENST00000373960.4:c.1024-121G>T MANE Select	ENSP00000363071.3:n.1024-121G>T
ENST00000373960.3:c.1024-121G>T	ENSP00000363071.3:n.1024-121G>T
ENST00000477226.5:n.496-121G>T
ENST00000492726.1:n.419-121G>T
NM_001927.3:c.1024-121G>T , LRG_380t1:c.1024-121G>T	NP_001918.3:n.1024-121G>T
NM_001927.4:c.1024-121G>T MANE Select	NP_001918.3:n.1024-121G>T
NM_001382708.1:c.1021-121G>T	NP_001369637.1:n.1021-121G>T
NM_001382709.1:c.736-265G>T	NP_001369638.1:n.736-265G>T
NM_001382710.1:c.1024-190G>T	NP_001369639.1:n.1024-190G>T
NM_001382711.1:c.1024-142G>T	NP_001369640.1:n.1024-142G>T
NM_001382712.1:c.1024-121G>T	NP_001369641.1:n.1024-121G>T
NM_001382713.1:c.754-121G>T	NP_001369642.1:n.754-121G>T