Canonical Allele Identifier: CA2125305

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425727C>T , CM000664.2:g.219425727C>T	GRCh38
NC_000002.11:g.220290449C>T , CM000664.1:g.220290449C>T	GRCh37
NC_000002.10:g.219998693C>T	NCBI36
NG_008043.1:g.12351C>T , LRG_380:g.12351C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.827C>T
ENST00000683013.1:n.741C>T
ENST00000373960.4:c.1353C>T MANE Select	ENSP00000363071.3:p.Ile451=
ENST00000373960.3:c.1353C>T	ENSP00000363071.3:p.Ile451=
ENST00000483395.1:n.208C>T
NM_001927.3:c.1353C>T , LRG_380t1:c.1353C>T	NP_001918.3:p.Ile451=
NM_001927.4:c.1353C>T MANE Select	NP_001918.3:p.Ile451=
NM_001382708.1:c.1350C>T	NP_001369637.1:p.Ile450=
NM_001382709.1:c.921C>T	NP_001369638.1:p.Ile307=
NM_001382710.1:c.1284C>T	NP_001369639.1:p.Ile428=
NM_001382711.1:c.1332C>T	NP_001369640.1:p.Ile444=
NM_001382712.1:c.1353C>T	NP_001369641.1:p.Ile451=
NM_001382713.1:c.1083C>T	NP_001369642.1:p.Ile361=