Canonical Allele Identifier: CA1117446208

Gene: DPYS

Linked Data

• dbSNP Id: rs1462686452
• gnomAD v3: 8-104379491-A-G
• gnomAD v4: 8-104379491-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104379491A>G , CM000670.2:g.104379491A>G	GRCh38
NC_000008.10:g.105391719A>G , CM000670.1:g.105391719A>G	GRCh37
NC_000008.9:g.105460895A>G	NCBI36
NG_008840.1:g.92559T>C
NG_008840.2:g.92559T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351513.7:c.*367T>C MANE Select	ENSP00000276651.2:n.*367T>C
ENST00000351513.6:c.*367T>C	ENSP00000276651.2:n.*367T>C
ENST00000520806.1:n.581T>C
ENST00000521601.1:n.328+1693T>C
ENST00000533874.1:c.426T>C
NM_001385.2:c.*367T>C	NP_001376.1:n.*367T>C
XM_005250818.2:c.*367T>C	XP_005250875.1:n.*367T>C
XM_006716518.2:c.*367T>C	XP_006716581.1:n.*367T>C
XM_005250818.3:c.*367T>C	XP_005250875.1:n.*367T>C
XM_006716518.3:c.*367T>C	XP_006716581.1:n.*367T>C
XM_024447087.1:c.*904T>C	XP_024302855.1:n.*904T>C
XR_001745489.1:n.2526T>C
XR_001745490.2:n.2418T>C
NM_001385.3:c.*367T>C MANE Select	NP_001376.1:n.*367T>C