Canonical Allele Identifier: CA1807671445

Gene: DPYS

Linked Data

• dbSNP Id: rs1810963012

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104379532A>G , CM000670.2:g.104379532A>G	GRCh38
NC_000008.10:g.105391760A>G , CM000670.1:g.105391760A>G	GRCh37
NC_000008.9:g.105460936A>G	NCBI36
NG_008840.1:g.92518T>C
NG_008840.2:g.92518T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351513.7:c.*326T>C MANE Select	ENSP00000276651.2:n.*326T>C
ENST00000351513.6:c.*326T>C	ENSP00000276651.2:n.*326T>C
ENST00000520806.1:n.540T>C
ENST00000521601.1:n.328+1652T>C
ENST00000533874.1:c.385T>C
NM_001385.2:c.*326T>C	NP_001376.1:n.*326T>C
XM_005250818.2:c.*326T>C	XP_005250875.1:n.*326T>C
XM_006716518.2:c.*326T>C	XP_006716581.1:n.*326T>C
XM_005250818.3:c.*326T>C	XP_005250875.1:n.*326T>C
XM_006716518.3:c.*326T>C	XP_006716581.1:n.*326T>C
XM_024447087.1:c.*863T>C	XP_024302855.1:n.*863T>C
XR_001745489.1:n.2485T>C
XR_001745490.2:n.2377T>C
NM_001385.3:c.*326T>C MANE Select	NP_001376.1:n.*326T>C