Canonical Allele Identifier: CA583938927

Gene: DPYS

Linked Data

• dbSNP Id: rs1259250339
• gnomAD v2: 8-105391803-A-G
• gnomAD v3: 8-104379575-A-G
• gnomAD v4: 8-104379575-A-G
• MyVariant Identifiers: chr8:g.105391803A>G (hg19) ; chr8:g.104379575A>G (hg38)

Genomic Alleles

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

Transcript Alleles

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