Canonical Allele Identifier: CA2125232

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421371T>C , CM000664.2:g.219421371T>C	GRCh38
NC_000002.11:g.220286093T>C , CM000664.1:g.220286093T>C	GRCh37
NC_000002.10:g.219994337T>C	NCBI36
NG_008043.1:g.7995T>C , LRG_380:g.7995T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001927.4:c.1055T>C MANE Select	NP_001918.3:p.Leu352Ser
ENST00000373960.4:c.1055T>C MANE Select	ENSP00000363071.3:p.Leu352Ser
NM_001382708.1:c.1052T>C	NP_001369637.1:p.Leu351Ser
NM_001382709.1:c.736-113T>C	NP_001369638.1:n.736-113T>C
NM_001382710.1:c.1024-38T>C	NP_001369639.1:n.1024-38T>C
NM_001382711.1:c.1034T>C	NP_001369640.1:p.Leu345Ser
NM_001382712.1:c.1055T>C	NP_001369641.1:p.Leu352Ser
NM_001382713.1:c.785T>C	NP_001369642.1:p.Leu262Ser
NM_001927.3:c.1055T>C , LRG_380t1:c.1055T>C	NP_001918.3:p.Leu352Ser
ENST00000373960.3:c.1055T>C	ENSP00000363071.3:p.Leu352Ser
ENST00000477226.5:n.527T>C
ENST00000477226.6:n.529T>C
ENST00000492726.1:n.450T>C
ENST00000683013.1:n.443T>C