Canonical Allele Identifier: CA133805

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421342C>T , CM000664.2:g.219421342C>T	GRCh38
NC_000002.11:g.220286064C>T , CM000664.1:g.220286064C>T	GRCh37
NC_000002.10:g.219994308C>T	NCBI36
NG_008043.1:g.7966C>T , LRG_380:g.7966C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.500C>T
ENST00000683013.1:n.414C>T
ENST00000373960.4:c.1026C>T MANE Select	ENSP00000363071.3:p.Asn342=
ENST00000373960.3:c.1026C>T	ENSP00000363071.3:p.Asn342=
ENST00000477226.5:n.498C>T
ENST00000492726.1:n.421C>T
NM_001927.3:c.1026C>T , LRG_380t1:c.1026C>T	NP_001918.3:p.Asn342=
NM_001927.4:c.1026C>T MANE Select	NP_001918.3:p.Asn342=
NM_001382708.1:c.1023C>T	NP_001369637.1:p.Asn341=
NM_001382709.1:c.736-142C>T	NP_001369638.1:n.736-142C>T
NM_001382710.1:c.1024-67C>T	NP_001369639.1:n.1024-67C>T
NM_001382711.1:c.1024-19C>T	NP_001369640.1:n.1024-19C>T
NM_001382712.1:c.1026C>T	NP_001369641.1:p.Asn342=
NM_001382713.1:c.756C>T	NP_001369642.1:p.Asn252=