Canonical Allele Identifier: CA4838432

Gene: DPYS

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104429590C>T , CM000670.2:g.104429590C>T	GRCh38
NC_000008.10:g.105441818C>T , CM000670.1:g.105441818C>T	GRCh37
NC_000008.9:g.105510994C>T	NCBI36
NG_008840.1:g.42460G>A
NG_008840.2:g.42460G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001385.3:c.905G>A MANE Select	NP_001376.1:p.Arg302Gln
ENST00000351513.7:c.905G>A MANE Select	ENSP00000276651.2:p.Arg302Gln
NM_001385.2:c.905G>A	NP_001376.1:p.Arg302Gln
ENST00000351513.6:c.905G>A	ENSP00000276651.2:p.Arg302Gln
ENST00000519217.1:n.233G>A
XM_005250818.2:c.905G>A	XP_005250875.1:p.Arg302Gln
XM_005250818.3:c.905G>A	XP_005250875.1:p.Arg302Gln
XM_006716518.2:c.746G>A	XP_006716581.1:p.Arg249Gln
XM_006716518.3:c.746G>A	XP_006716581.1:p.Arg249Gln
XM_011516903.1:c.905G>A	XP_011515205.1:p.Arg302Gln
XM_011516903.3:c.905G>A	XP_011515205.1:p.Arg302Gln
XM_011516904.1:c.905G>A	XP_011515206.1:p.Arg302Gln
XM_017013167.2:c.905G>A	XP_016868656.1:p.Arg302Gln
XM_024447087.1:c.905G>A	XP_024302855.1:p.Arg302Gln
XR_001745489.1:n.1059G>A
XR_001745490.2:n.1059G>A
XR_001746027.1:n.783C>T
XR_928508.1:n.646+137C>T