Canonical Allele Identifier: CA341376048

Gene: DPYD

Linked Data

• gnomAD v4: 1-97450124-T-G
• MyVariant Identifiers: chr1:g.97915680T>G (hg19) ; chr1:g.97450124T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97450124T>G , CM000663.2:g.97450124T>G	GRCh38
NC_000001.10:g.97915680T>G , CM000663.1:g.97915680T>G	GRCh37
NC_000001.9:g.97688268T>G	NCBI36
NG_008807.2:g.475936A>C , LRG_722:g.475936A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370192.8:c.1840A>C MANE Select	ENSP00000359211.3:p.Ser614Arg
ENST00000370192.7:c.1840A>C	ENSP00000359211.3:p.Ser614Arg
NM_000110.3:c.1840A>C , LRG_722t1:c.1840A>C	NP_000101.2:p.Ser614Arg
XM_005270562.3:c.1624A>C	XP_005270619.2:p.Ser542Arg
XM_006710397.2:c.1840A>C	XP_006710460.1:p.Ser614Arg
XM_006710397.3:c.1840A>C	XP_006710460.1:p.Ser614Arg
XM_017000507.1:c.1729A>C	XP_016855996.1:p.Ser577Arg
XM_017000508.2:c.1345A>C	XP_016855997.1:p.Ser449Arg
XM_017000509.2:c.1345A>C	XP_016855998.1:p.Ser449Arg
XM_017000510.1:c.1345A>C	XP_016855999.1:p.Ser449Arg
NM_000110.4:c.1840A>C MANE Select	NP_000101.2:p.Ser614Arg