Canonical Allele Identifier: CA844969633

Gene: DPYS

Linked Data

• dbSNP Id: rs1352053888
• gnomAD v3: 8-104379525-C-T
• gnomAD v4: 8-104379525-C-T
• MyVariant Identifiers: chr8:g.105391753C>T (hg19) ; chr8:g.104379525C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104379525C>T , CM000670.2:g.104379525C>T	GRCh38
NC_000008.10:g.105391753C>T , CM000670.1:g.105391753C>T	GRCh37
NC_000008.9:g.105460929C>T	NCBI36
NG_008840.1:g.92525G>A
NG_008840.2:g.92525G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351513.7:c.*333G>A MANE Select	ENSP00000276651.2:n.*333G>A
ENST00000351513.6:c.*333G>A	ENSP00000276651.2:n.*333G>A
ENST00000520806.1:n.547G>A
ENST00000521601.1:n.328+1659G>A
ENST00000533874.1:c.392G>A
NM_001385.2:c.*333G>A	NP_001376.1:n.*333G>A
XM_005250818.2:c.*333G>A	XP_005250875.1:n.*333G>A
XM_006716518.2:c.*333G>A	XP_006716581.1:n.*333G>A
XM_005250818.3:c.*333G>A	XP_005250875.1:n.*333G>A
XM_006716518.3:c.*333G>A	XP_006716581.1:n.*333G>A
XM_024447087.1:c.*870G>A	XP_024302855.1:n.*870G>A
XR_001745489.1:n.2492G>A
XR_001745490.2:n.2384G>A
NM_001385.3:c.*333G>A MANE Select	NP_001376.1:n.*333G>A