Canonical Allele Identifier: CA1807671472

Gene: DPYS

Linked Data

• dbSNP Id: rs1032555897

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104379609G>A , CM000670.2:g.104379609G>A	GRCh38
NC_000008.10:g.105391837G>A , CM000670.1:g.105391837G>A	GRCh37
NC_000008.9:g.105461013G>A	NCBI36
NG_008840.1:g.92441C>T
NG_008840.2:g.92441C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351513.7:c.*249C>T MANE Select	ENSP00000276651.2:n.*249C>T
ENST00000351513.6:c.*249C>T	ENSP00000276651.2:n.*249C>T
ENST00000520806.1:n.463C>T
ENST00000521601.1:n.328+1575C>T
ENST00000533874.1:c.308C>T
NM_001385.2:c.*249C>T	NP_001376.1:n.*249C>T
XM_005250818.2:c.*249C>T	XP_005250875.1:n.*249C>T
XM_006716518.2:c.*249C>T	XP_006716581.1:n.*249C>T
XM_005250818.3:c.*249C>T	XP_005250875.1:n.*249C>T
XM_006716518.3:c.*249C>T	XP_006716581.1:n.*249C>T
XM_024447087.1:c.*786C>T	XP_024302855.1:n.*786C>T
XR_001745489.1:n.2408C>T
XR_001745490.2:n.2300C>T
NM_001385.3:c.*249C>T MANE Select	NP_001376.1:n.*249C>T