Canonical Allele Identifier: CA1329211345

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421542T= , CM000664.2:g.219421542T=	GRCh38
NC_000002.11:g.220286264T= , CM000664.1:g.220286264T=	GRCh37
NC_000002.10:g.219994508T=	NCBI36
NG_008043.1:g.8166T= , LRG_380:g.8166T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.700T=
ENST00000683013.1:n.614T=
ENST00000373960.4:c.1226T= MANE Select	ENSP00000363071.3:p.Leu409=
ENST00000373960.3:c.1226T=	ENSP00000363071.3:p.Leu409=
ENST00000477226.5:n.698T=
ENST00000492726.1:n.621T=
NM_001927.3:c.1226T= , LRG_380t1:c.1226T=	NP_001918.3:p.Leu409=
NM_001927.4:c.1226T= MANE Select	NP_001918.3:p.Leu409=
NM_001382708.1:c.1223T=	NP_001369637.1:p.Leu408=
NM_001382709.1:c.794T=	NP_001369638.1:p.Leu265=
NM_001382710.1:c.1157T=	NP_001369639.1:p.Leu386=
NM_001382711.1:c.1205T=	NP_001369640.1:p.Leu402=
NM_001382712.1:c.1226T=	NP_001369641.1:p.Leu409=
NM_001382713.1:c.956T=	NP_001369642.1:p.Leu319=