Canonical Allele Identifier: CA419145220

Gene: DPYD

Linked Data

• dbSNP Id: rs1241988763
• gnomAD v2: 1-98015140-A-G
• gnomAD v4: 1-97549584-A-G
• MyVariant Identifiers: chr1:g.98015140A>G (hg19) ; chr1:g.97549584A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97549584A>G , CM000663.2:g.97549584A>G	GRCh38
NC_000001.10:g.98015140A>G , CM000663.1:g.98015140A>G	GRCh37
NC_000001.9:g.97787728A>G	NCBI36
NG_008807.2:g.376476T>C , LRG_722:g.376476T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370192.8:c.1500T>C MANE Select	ENSP00000359211.3:p.Ser500=
ENST00000370192.7:c.1500T>C	ENSP00000359211.3:p.Ser500=
NM_000110.3:c.1500T>C , LRG_722t1:c.1500T>C	NP_000101.2:p.Ser500=
XM_005270562.3:c.1500T>C	XP_005270619.2:p.Ser500=
XM_006710397.2:c.1500T>C	XP_006710460.1:p.Ser500=
XM_006710397.3:c.1500T>C	XP_006710460.1:p.Ser500=
XM_017000507.1:c.1389T>C	XP_016855996.1:p.Ser463=
XM_017000508.2:c.1005T>C	XP_016855997.1:p.Ser335=
XM_017000509.2:c.1005T>C	XP_016855998.1:p.Ser335=
XM_017000510.1:c.1005T>C	XP_016855999.1:p.Ser335=
NM_000110.4:c.1500T>C MANE Select	NP_000101.2:p.Ser500=