Canonical Allele Identifier: CA4838267

Gene: DPYS

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104381289C>T , CM000670.2:g.104381289C>T	GRCh38
NC_000008.10:g.105393517C>T , CM000670.1:g.105393517C>T	GRCh37
NC_000008.9:g.105462693C>T	NCBI36
NG_008840.1:g.90761G>A
NG_008840.2:g.90761G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001385.3:c.1469G>A MANE Select	NP_001376.1:p.Arg490His
ENST00000351513.7:c.1469G>A MANE Select	ENSP00000276651.2:p.Arg490His
NM_001385.2:c.1469G>A	NP_001376.1:p.Arg490His
ENST00000351513.6:c.1469G>A	ENSP00000276651.2:p.Arg490His
ENST00000520483.5:n.373G>A
ENST00000520806.1:n.123G>A
ENST00000521372.1:n.301G>A
ENST00000521601.1:n.223G>A
ENST00000533874.1:c.74-1446G>A
XM_005250818.2:c.1577G>A	XP_005250875.1:p.Arg526His
XM_005250818.3:c.1577G>A	XP_005250875.1:p.Arg526His
XM_006716518.2:c.1418G>A	XP_006716581.1:p.Arg473His
XM_006716518.3:c.1418G>A	XP_006716581.1:p.Arg473His
XM_024447087.1:c.1577G>A	XP_024302855.1:p.Arg526His
XR_001745489.1:n.2068G>A
XR_001745490.2:n.1960G>A