Canonical Allele Identifier: CA350691558

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420613C>T , CM000664.2:g.219420613C>T	GRCh38
NC_000002.11:g.220285335C>T , CM000664.1:g.220285335C>T	GRCh37
NC_000002.10:g.219993579C>T	NCBI36
NG_008043.1:g.7237C>T , LRG_380:g.7237C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001927.4:c.854C>T MANE Select	NP_001918.3:p.Ala285Val
ENST00000373960.4:c.854C>T MANE Select	ENSP00000363071.3:p.Ala285Val
NM_001382708.1:c.851C>T	NP_001369637.1:p.Ala284Val
NM_001382709.1:c.735+267C>T	NP_001369638.1:n.735+267C>T
NM_001382710.1:c.854C>T	NP_001369639.1:p.Ala285Val
NM_001382711.1:c.854C>T	NP_001369640.1:p.Ala285Val
NM_001382712.1:c.854C>T	NP_001369641.1:p.Ala285Val
NM_001382713.1:c.584C>T	NP_001369642.1:p.Ala195Val
NM_001927.3:c.854C>T , LRG_380t1:c.854C>T	NP_001918.3:p.Ala285Val
ENST00000373960.3:c.854C>T	ENSP00000363071.3:p.Ala285Val
ENST00000477226.5:n.326C>T
ENST00000477226.6:n.328C>T
ENST00000492726.1:n.249C>T
ENST00000683013.1:n.242C>T