Canonical Allele Identifier: CA4838268

Gene: DPYS

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104381290G>A , CM000670.2:g.104381290G>A	GRCh38
NC_000008.10:g.105393518G>A , CM000670.1:g.105393518G>A	GRCh37
NC_000008.9:g.105462694G>A	NCBI36
NG_008840.1:g.90760C>T
NG_008840.2:g.90760C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001385.3:c.1468C>T MANE Select	NP_001376.1:p.Arg490Cys
ENST00000351513.7:c.1468C>T MANE Select	ENSP00000276651.2:p.Arg490Cys
NM_001385.2:c.1468C>T	NP_001376.1:p.Arg490Cys
ENST00000351513.6:c.1468C>T	ENSP00000276651.2:p.Arg490Cys
ENST00000520483.5:n.372C>T
ENST00000520806.1:n.122C>T
ENST00000521372.1:n.300C>T
ENST00000521601.1:n.222C>T
ENST00000533874.1:c.74-1447C>T
XM_005250818.2:c.1576C>T	XP_005250875.1:p.Arg526Cys
XM_005250818.3:c.1576C>T	XP_005250875.1:p.Arg526Cys
XM_006716518.2:c.1417C>T	XP_006716581.1:p.Arg473Cys
XM_006716518.3:c.1417C>T	XP_006716581.1:p.Arg473Cys
XM_024447087.1:c.1576C>T	XP_024302855.1:p.Arg526Cys
XR_001745489.1:n.2067C>T
XR_001745490.2:n.1959C>T