Canonical Allele Identifier: CA308298

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425989A>C , CM000664.2:g.219425989A>C	GRCh38
NC_000002.11:g.220290711A>C , CM000664.1:g.220290711A>C	GRCh37
NC_000002.10:g.219998955A>C	NCBI36
NG_008043.1:g.12613A>C , LRG_380:g.12613A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001927.4:c.1412A>C MANE Select	NP_001918.3:p.Ter471Ser
ENST00000373960.4:c.1412A>C MANE Select	ENSP00000363071.3:p.Ter471Ser
NM_001382708.1:c.1409A>C	NP_001369637.1:p.Ter470Ser
NM_001382709.1:c.980A>C	NP_001369638.1:p.Ter327Ser
NM_001382710.1:c.1343A>C	NP_001369639.1:p.Ter448Ser
NM_001382711.1:c.1391A>C	NP_001369640.1:p.Ter464Ser
NM_001382712.1:c.1371+244A>C	NP_001369641.1:n.1371+244A>C
NM_001382713.1:c.1142A>C	NP_001369642.1:p.Ter381Ser
NM_001927.3:c.1412A>C , LRG_380t1:c.1412A>C	NP_001918.3:p.Ter471Ser
ENST00000373960.3:c.1412A>C	ENSP00000363071.3:p.Ter471Ser
ENST00000477226.6:n.886A>C
ENST00000483395.1:n.267A>C
ENST00000683013.1:n.800A>C