Canonical Allele Identifier: CA2688213207

Gene: DPYS

Linked Data

• gnomAD v4: 8-104379575-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104379575A>C , CM000670.2:g.104379575A>C	GRCh38
NC_000008.10:g.105391803A>C , CM000670.1:g.105391803A>C	GRCh37
NC_000008.9:g.105460979A>C	NCBI36
NG_008840.1:g.92475T>G
NG_008840.2:g.92475T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351513.7:c.*283T>G MANE Select	ENSP00000276651.2:n.*283T>G
ENST00000351513.6:c.*283T>G	ENSP00000276651.2:n.*283T>G
ENST00000520806.1:n.497T>G
ENST00000521601.1:n.328+1609T>G
ENST00000533874.1:c.342T>G
NM_001385.2:c.*283T>G	NP_001376.1:n.*283T>G
XM_005250818.2:c.*283T>G	XP_005250875.1:n.*283T>G
XM_006716518.2:c.*283T>G	XP_006716581.1:n.*283T>G
XM_005250818.3:c.*283T>G	XP_005250875.1:n.*283T>G
XM_006716518.3:c.*283T>G	XP_006716581.1:n.*283T>G
XM_024447087.1:c.*820T>G	XP_024302855.1:n.*820T>G
XR_001745489.1:n.2442T>G
XR_001745490.2:n.2334T>G
NM_001385.3:c.*283T>G MANE Select	NP_001376.1:n.*283T>G