Canonical Allele Identifier: CA350696558

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219423790A>C , CM000664.2:g.219423790A>C	GRCh38
NC_000002.11:g.220288512A>C , CM000664.1:g.220288512A>C	GRCh37
NC_000002.10:g.219996756A>C	NCBI36
NG_008043.1:g.10414A>C , LRG_380:g.10414A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001927.4:c.1258A>C MANE Select	NP_001918.3:p.Ile420Leu
ENST00000373960.4:c.1258A>C MANE Select	ENSP00000363071.3:p.Ile420Leu
NM_001382708.1:c.1255A>C	NP_001369637.1:p.Ile419Leu
NM_001382709.1:c.826A>C	NP_001369638.1:p.Ile276Leu
NM_001382710.1:c.1189A>C	NP_001369639.1:p.Ile397Leu
NM_001382711.1:c.1237A>C	NP_001369640.1:p.Ile413Leu
NM_001382712.1:c.1258A>C	NP_001369641.1:p.Ile420Leu
NM_001382713.1:c.988A>C	NP_001369642.1:p.Ile330Leu
NM_001927.3:c.1258A>C , LRG_380t1:c.1258A>C	NP_001918.3:p.Ile420Leu
ENST00000373960.3:c.1258A>C	ENSP00000363071.3:p.Ile420Leu
ENST00000477226.5:n.730A>C
ENST00000477226.6:n.732A>C
ENST00000492726.1:n.653A>C
ENST00000683013.1:n.646A>C