Canonical Allele Identifier: CA350696531

Gene: DES

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219423787C>A , CM000664.2:g.219423787C>A	GRCh38
NC_000002.11:g.220288509C>A , CM000664.1:g.220288509C>A	GRCh37
NC_000002.10:g.219996753C>A	NCBI36
NG_008043.1:g.10411C>A , LRG_380:g.10411C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.729C>A
ENST00000683013.1:n.643C>A
ENST00000373960.4:c.1255C>A MANE Select	ENSP00000363071.3:p.Pro419Thr
ENST00000373960.3:c.1255C>A	ENSP00000363071.3:p.Pro419Thr
ENST00000477226.5:n.727C>A
ENST00000492726.1:n.650C>A
NM_001927.3:c.1255C>A , LRG_380t1:c.1255C>A	NP_001918.3:p.Pro419Thr
NM_001927.4:c.1255C>A MANE Select	NP_001918.3:p.Pro419Thr
NM_001382708.1:c.1252C>A	NP_001369637.1:p.Pro418Thr
NM_001382709.1:c.823C>A	NP_001369638.1:p.Pro275Thr
NM_001382710.1:c.1186C>A	NP_001369639.1:p.Pro396Thr
NM_001382711.1:c.1234C>A	NP_001369640.1:p.Pro412Thr
NM_001382712.1:c.1255C>A	NP_001369641.1:p.Pro419Thr
NM_001382713.1:c.985C>A	NP_001369642.1:p.Pro329Thr