Canonical Allele Identifier: CA2125278

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219423789C>T , CM000664.2:g.219423789C>T	GRCh38
NC_000002.11:g.220288511C>T , CM000664.1:g.220288511C>T	GRCh37
NC_000002.10:g.219996755C>T	NCBI36
NG_008043.1:g.10413C>T , LRG_380:g.10413C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.731C>T
ENST00000683013.1:n.645C>T
ENST00000373960.4:c.1257C>T MANE Select	ENSP00000363071.3:p.Pro419=
ENST00000373960.3:c.1257C>T	ENSP00000363071.3:p.Pro419=
ENST00000477226.5:n.729C>T
ENST00000492726.1:n.652C>T
NM_001927.3:c.1257C>T , LRG_380t1:c.1257C>T	NP_001918.3:p.Pro419=
NM_001927.4:c.1257C>T MANE Select	NP_001918.3:p.Pro419=
NM_001382708.1:c.1254C>T	NP_001369637.1:p.Pro418=
NM_001382709.1:c.825C>T	NP_001369638.1:p.Pro275=
NM_001382710.1:c.1188C>T	NP_001369639.1:p.Pro396=
NM_001382711.1:c.1236C>T	NP_001369640.1:p.Pro412=
NM_001382712.1:c.1257C>T	NP_001369641.1:p.Pro419=
NM_001382713.1:c.987C>T	NP_001369642.1:p.Pro329=