Canonical Allele Identifier: CA963766

Gene: DPYD

Linked Data

• ClinVar Variation Id: 2606986
• ClinVar RCV Id: RCV003355047
• dbSNP Id: rs767818267
• ExAC: 1:98293694 C / T
• gnomAD v2: 1-98293694-C-T
• gnomAD v3: 1-97828138-C-T
• gnomAD v4: 1-97828138-C-T
• MyVariant Identifiers: chr1:g.98293694C>T (hg19) ; chr1:g.97828138C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97828138C>T , CM000663.2:g.97828138C>T	GRCh38
NC_000001.10:g.98293694C>T , CM000663.1:g.98293694C>T	GRCh37
NC_000001.9:g.98066282C>T	NCBI36
NG_008807.2:g.97922G>A , LRG_722:g.97922G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370192.8:c.209G>A MANE Select	ENSP00000359211.3:p.Arg70Gln
ENST00000306031.5:c.209G>A	ENSP00000307107.5:p.Arg70Gln
ENST00000370192.7:c.209G>A	ENSP00000359211.3:p.Arg70Gln
NM_000110.3:c.209G>A , LRG_722t1:c.209G>A	NP_000101.2:p.Arg70Gln
NM_001160301.1:c.209G>A , LRG_722t2:c.209G>A	NP_001153773.1:p.Arg70Gln
XM_005270562.3:c.209G>A	XP_005270619.2:p.Arg70Gln
XM_006710397.2:c.209G>A	XP_006710460.1:p.Arg70Gln
XM_006710397.3:c.209G>A	XP_006710460.1:p.Arg70Gln
XM_017000507.1:c.98G>A	XP_016855996.1:p.Arg33Gln
XM_017000508.2:c.-502G>A	XP_016855997.1:n.-502G>A
XM_017000509.2:c.-400G>A	XP_016855998.1:n.-400G>A
XM_017000510.1:c.-400G>A	XP_016855999.1:n.-400G>A
XR_001737014.1:n.346G>A
NM_000110.4:c.209G>A MANE Select	NP_000101.2:p.Arg70Gln