Canonical Allele Identifier: CA1329211380

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421600T= , CM000664.2:g.219421600T=	GRCh38
NC_000002.11:g.220286322T= , CM000664.1:g.220286322T=	GRCh37
NC_000002.10:g.219994566T=	NCBI36
NG_008043.1:g.8224T= , LRG_380:g.8224T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.718+40T=
ENST00000683013.1:n.632+40T=
ENST00000373960.4:c.1244+40T= MANE Select	ENSP00000363071.3:n.1244+40T=
ENST00000373960.3:c.1244+40T=	ENSP00000363071.3:n.1244+40T=
ENST00000477226.5:n.716+40T=
ENST00000492726.1:n.639+40T=
NM_001927.3:c.1244+40T= , LRG_380t1:c.1244+40T=	NP_001918.3:n.1244+40T=
NM_001927.4:c.1244+40T= MANE Select	NP_001918.3:n.1244+40T=
NM_001382708.1:c.1241+40T=	NP_001369637.1:n.1241+40T=
NM_001382709.1:c.812+40T=	NP_001369638.1:n.812+40T=
NM_001382710.1:c.1175+40T=	NP_001369639.1:n.1175+40T=
NM_001382711.1:c.1223+40T=	NP_001369640.1:n.1223+40T=
NM_001382712.1:c.1244+40T=	NP_001369641.1:n.1244+40T=
NM_001382713.1:c.974+40T=	NP_001369642.1:n.974+40T=