Canonical Allele Identifier: CA341375737

Gene: DPYD

Linked Data

• dbSNP Id: rs1472945983
• gnomAD v3: 1-97382398-A-C
• gnomAD v4: 1-97382398-A-C
• MyVariant Identifiers: chr1:g.97847954A>C (hg19) ; chr1:g.97382398A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97382398A>C , CM000663.2:g.97382398A>C	GRCh38
NC_000001.10:g.97847954A>C , CM000663.1:g.97847954A>C	GRCh37
NC_000001.9:g.97620542A>C	NCBI36
NG_008807.2:g.543662T>G , LRG_722:g.543662T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370192.8:c.1969T>G MANE Select	ENSP00000359211.3:p.Ser657Ala
ENST00000370192.7:c.1969T>G	ENSP00000359211.3:p.Ser657Ala
NM_000110.3:c.1969T>G , LRG_722t1:c.1969T>G	NP_000101.2:p.Ser657Ala
XM_005270562.3:c.1753T>G	XP_005270619.2:p.Ser585Ala
XM_006710397.2:c.1969T>G	XP_006710460.1:p.Ser657Ala
XR_947619.1:n.1347-1236A>C
XR_947620.1:n.1125-1236A>C
XR_947621.1:n.1347-1236A>C
XM_006710397.3:c.1969T>G	XP_006710460.1:p.Ser657Ala
XM_017000507.1:c.1858T>G	XP_016855996.1:p.Ser620Ala
XM_017000508.2:c.1474T>G	XP_016855997.1:p.Ser492Ala
XM_017000509.2:c.1474T>G	XP_016855998.1:p.Ser492Ala
XM_017000510.1:c.1474T>G	XP_016855999.1:p.Ser492Ala
XR_001737686.2:n.692-1236A>C
XR_001737687.1:n.692-1236A>C
XR_001737688.2:n.692-1236A>C
NM_000110.4:c.1969T>G MANE Select	NP_000101.2:p.Ser657Ala