Canonical Allele Identifier: CA350693785

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421359A>C , CM000664.2:g.219421359A>C	GRCh38
NC_000002.11:g.220286081A>C , CM000664.1:g.220286081A>C	GRCh37
NC_000002.10:g.219994325A>C	NCBI36
NG_008043.1:g.7983A>C , LRG_380:g.7983A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001927.4:c.1043A>C MANE Select	NP_001918.3:p.Gln348Pro
ENST00000373960.4:c.1043A>C MANE Select	ENSP00000363071.3:p.Gln348Pro
NM_001382708.1:c.1040A>C	NP_001369637.1:p.Gln347Pro
NM_001382709.1:c.736-125A>C	NP_001369638.1:n.736-125A>C
NM_001382710.1:c.1024-50A>C	NP_001369639.1:n.1024-50A>C
NM_001382711.1:c.1024-2A>C	NP_001369640.1:n.1024-2A>C
NM_001382712.1:c.1043A>C	NP_001369641.1:p.Gln348Pro
NM_001382713.1:c.773A>C	NP_001369642.1:p.Gln258Pro
NM_001927.3:c.1043A>C , LRG_380t1:c.1043A>C	NP_001918.3:p.Gln348Pro
ENST00000373960.3:c.1043A>C	ENSP00000363071.3:p.Gln348Pro
ENST00000477226.5:n.515A>C
ENST00000477226.6:n.517A>C
ENST00000492726.1:n.438A>C
ENST00000683013.1:n.431A>C