Canonical Allele Identifier: CA10610481

Gene: DPYD

Linked Data

• ClinVar Variation Id: 298290
• ClinVar RCV Id: RCV000385960
• dbSNP Id: rs760663364
• MyVariant Identifiers: chr1:g.97981484G>C (hg19) ; chr1:g.97515928G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97515928G>C , CM000663.2:g.97515928G>C	GRCh38
NC_000001.10:g.97981484G>C , CM000663.1:g.97981484G>C	GRCh37
NC_000001.9:g.97754072G>C	NCBI36
NG_008807.2:g.410132C>G , LRG_722:g.410132C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370192.8:c.1538C>G MANE Select	ENSP00000359211.3:p.Ala513Gly
ENST00000370192.7:c.1538C>G	ENSP00000359211.3:p.Ala513Gly
NM_000110.3:c.1538C>G , LRG_722t1:c.1538C>G	NP_000101.2:p.Ala513Gly
XM_005270562.3:c.1524+33632C>G	XP_005270619.2:n.1524+33632C>G
XM_006710397.2:c.1538C>G	XP_006710460.1:p.Ala513Gly
XM_006710397.3:c.1538C>G	XP_006710460.1:p.Ala513Gly
XM_017000507.1:c.1427C>G	XP_016855996.1:p.Ala476Gly
XM_017000508.2:c.1043C>G	XP_016855997.1:p.Ala348Gly
XM_017000509.2:c.1043C>G	XP_016855998.1:p.Ala348Gly
XM_017000510.1:c.1043C>G	XP_016855999.1:p.Ala348Gly
NM_000110.4:c.1538C>G MANE Select	NP_000101.2:p.Ala513Gly