Canonical Allele Identifier: CA341379253

Gene: DPYD

Linked Data

• gnomAD v4: 1-97691750-A-C
• MyVariant Identifiers: chr1:g.98157306A>C (hg19) ; chr1:g.97691750A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97691750A>C , CM000663.2:g.97691750A>C	GRCh38
NC_000001.10:g.98157306A>C , CM000663.1:g.98157306A>C	GRCh37
NC_000001.9:g.97929894A>C	NCBI36
NG_008807.2:g.234310T>G , LRG_722:g.234310T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370192.8:c.729T>G MANE Select	ENSP00000359211.3:p.Phe243Leu
ENST00000370192.7:c.729T>G	ENSP00000359211.3:p.Phe243Leu
ENST00000474241.1:n.493T>G
NM_000110.3:c.729T>G , LRG_722t1:c.729T>G	NP_000101.2:p.Phe243Leu
XM_005270562.3:c.729T>G	XP_005270619.2:p.Phe243Leu
XM_006710397.2:c.729T>G	XP_006710460.1:p.Phe243Leu
XM_006710397.3:c.729T>G	XP_006710460.1:p.Phe243Leu
XM_017000507.1:c.618T>G	XP_016855996.1:p.Phe206Leu
XM_017000508.2:c.234T>G	XP_016855997.1:p.Phe78Leu
XM_017000509.2:c.234T>G	XP_016855998.1:p.Phe78Leu
XM_017000510.1:c.234T>G	XP_016855999.1:p.Phe78Leu
NM_000110.4:c.729T>G MANE Select	NP_000101.2:p.Phe243Leu