Canonical Allele Identifier: CA2688213198

Gene: DPYS

Linked Data

• gnomAD v4: 8-104379549-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104379549T>C , CM000670.2:g.104379549T>C	GRCh38
NC_000008.10:g.105391777T>C , CM000670.1:g.105391777T>C	GRCh37
NC_000008.9:g.105460953T>C	NCBI36
NG_008840.1:g.92501A>G
NG_008840.2:g.92501A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351513.7:c.*309A>G MANE Select	ENSP00000276651.2:n.*309A>G
ENST00000351513.6:c.*309A>G	ENSP00000276651.2:n.*309A>G
ENST00000520806.1:n.523A>G
ENST00000521601.1:n.328+1635A>G
ENST00000533874.1:c.368A>G
NM_001385.2:c.*309A>G	NP_001376.1:n.*309A>G
XM_005250818.2:c.*309A>G	XP_005250875.1:n.*309A>G
XM_006716518.2:c.*309A>G	XP_006716581.1:n.*309A>G
XM_005250818.3:c.*309A>G	XP_005250875.1:n.*309A>G
XM_006716518.3:c.*309A>G	XP_006716581.1:n.*309A>G
XM_024447087.1:c.*846A>G	XP_024302855.1:n.*846A>G
XR_001745489.1:n.2468A>G
XR_001745490.2:n.2360A>G
NM_001385.3:c.*309A>G MANE Select	NP_001376.1:n.*309A>G