Canonical Allele Identifier: CA4838290

Gene: DPYS

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104392834G>A , CM000670.2:g.104392834G>A	GRCh38
NC_000008.10:g.105405062G>A , CM000670.1:g.105405062G>A	GRCh37
NC_000008.9:g.105474238G>A	NCBI36
NG_008840.1:g.79216C>T
NG_008840.2:g.79216C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001385.3:c.1393C>T MANE Select	NP_001376.1:p.Arg465Ter
ENST00000351513.7:c.1393C>T MANE Select	ENSP00000276651.2:p.Arg465Ter
NM_001385.2:c.1393C>T	NP_001376.1:p.Arg465Ter
ENST00000351513.6:c.1393C>T	ENSP00000276651.2:p.Arg465Ter
ENST00000520483.5:n.297C>T
ENST00000521372.1:n.225C>T
ENST00000521601.1:n.198-11520C>T
ENST00000533874.1:c.23C>T
XM_005250818.2:c.1501C>T	XP_005250875.1:p.Arg501Ter
XM_005250818.3:c.1501C>T	XP_005250875.1:p.Arg501Ter
XM_006716518.2:c.1342C>T	XP_006716581.1:p.Arg448Ter
XM_006716518.3:c.1342C>T	XP_006716581.1:p.Arg448Ter
XM_011516903.1:c.1501C>T	XP_011515205.1:p.Arg501Ter
XM_011516903.3:c.1501C>T	XP_011515205.1:p.Arg501Ter
XM_024447087.1:c.1501C>T	XP_024302855.1:p.Arg501Ter
XR_001745489.1:n.1992C>T
XR_001745490.2:n.1884C>T