Canonical Allele Identifier: CA4838382

Gene: DPYS

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104428008C>T , CM000670.2:g.104428008C>T	GRCh38
NC_000008.10:g.105440236C>T , CM000670.1:g.105440236C>T	GRCh37
NC_000008.9:g.105509412C>T	NCBI36
NG_008840.1:g.44042G>A
NG_008840.2:g.44042G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001385.3:c.1064G>A MANE Select	NP_001376.1:p.Arg355Gln
ENST00000351513.7:c.1064G>A MANE Select	ENSP00000276651.2:p.Arg355Gln
NM_001385.2:c.1064G>A	NP_001376.1:p.Arg355Gln
ENST00000351513.6:c.1064G>A	ENSP00000276651.2:p.Arg355Gln
XM_005250818.2:c.1064G>A	XP_005250875.1:p.Arg355Gln
XM_005250818.3:c.1064G>A	XP_005250875.1:p.Arg355Gln
XM_006716518.2:c.905G>A	XP_006716581.1:p.Arg302Gln
XM_006716518.3:c.905G>A	XP_006716581.1:p.Arg302Gln
XM_011516903.1:c.1064G>A	XP_011515205.1:p.Arg355Gln
XM_011516903.3:c.1064G>A	XP_011515205.1:p.Arg355Gln
XM_011516904.1:c.1064G>A	XP_011515206.1:p.Arg355Gln
XM_017013167.2:c.1064G>A	XP_016868656.1:p.Arg355Gln
XM_024447087.1:c.1064G>A	XP_024302855.1:p.Arg355Gln
XR_001745489.1:n.1218G>A
XR_001745490.2:n.1218G>A