Canonical Allele Identifier: CA1042517332

Gene: DES

Linked Data

• dbSNP Id: rs1018748865
• gnomAD v3: 2-219425559-G-T
• gnomAD v4: 2-219425559-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425559G>T , CM000664.2:g.219425559G>T	GRCh38
NC_000002.11:g.220290281G>T , CM000664.1:g.220290281G>T	GRCh37
NC_000002.10:g.219998525G>T	NCBI36
NG_008043.1:g.12183G>T , LRG_380:g.12183G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.763-104G>T
ENST00000683013.1:n.677-104G>T
ENST00000373960.4:c.1289-104G>T MANE Select	ENSP00000363071.3:n.1289-104G>T
ENST00000373960.3:c.1289-104G>T	ENSP00000363071.3:n.1289-104G>T
ENST00000483395.1:n.40G>T
NM_001927.3:c.1289-104G>T , LRG_380t1:c.1289-104G>T	NP_001918.3:n.1289-104G>T
NM_001927.4:c.1289-104G>T MANE Select	NP_001918.3:n.1289-104G>T
NM_001382708.1:c.1286-104G>T	NP_001369637.1:n.1286-104G>T
NM_001382709.1:c.857-104G>T	NP_001369638.1:n.857-104G>T
NM_001382710.1:c.1220-104G>T	NP_001369639.1:n.1220-104G>T
NM_001382711.1:c.1268-104G>T	NP_001369640.1:n.1268-104G>T
NM_001382712.1:c.1289-104G>T	NP_001369641.1:n.1289-104G>T
NM_001382713.1:c.1019-104G>T	NP_001369642.1:n.1019-104G>T