Canonical Allele Identifier: CA2577252617

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421320G>T , CM000664.2:g.219421320G>T	GRCh38
NC_000002.11:g.220286042G>T , CM000664.1:g.220286042G>T	GRCh37
NC_000002.10:g.219994286G>T	NCBI36
NG_008043.1:g.7944G>T , LRG_380:g.7944G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.498-20G>T
ENST00000683013.1:n.412-20G>T
ENST00000373960.4:c.1024-20G>T MANE Select	ENSP00000363071.3:n.1024-20G>T
ENST00000373960.3:c.1024-20G>T	ENSP00000363071.3:n.1024-20G>T
ENST00000477226.5:n.496-20G>T
ENST00000492726.1:n.419-20G>T
NM_001927.3:c.1024-20G>T , LRG_380t1:c.1024-20G>T	NP_001918.3:n.1024-20G>T
NM_001927.4:c.1024-20G>T MANE Select	NP_001918.3:n.1024-20G>T
NM_001382708.1:c.1021-20G>T	NP_001369637.1:n.1021-20G>T
NM_001382709.1:c.736-164G>T	NP_001369638.1:n.736-164G>T
NM_001382710.1:c.1024-89G>T	NP_001369639.1:n.1024-89G>T
NM_001382711.1:c.1024-41G>T	NP_001369640.1:n.1024-41G>T
NM_001382712.1:c.1024-20G>T	NP_001369641.1:n.1024-20G>T
NM_001382713.1:c.754-20G>T	NP_001369642.1:n.754-20G>T