Canonical Allele Identifier: CA228112
Gene: DPYD HGNC NCBI

Linked Data

ClinVar Variation Id: 100088
ClinVar RCV Id: RCV000086470 RCV000244711 RCV000270743 RCV001787906 RCV001787905
dbSNP Id: rs17376848
ExAC: 1:97915624 A / G
gnomAD v2: 1-97915624-A-G
gnomAD v3: 1-97450068-A-G
gnomAD v4: 1-97450068-A-G
MyVariant Identifiers: chr1:g.97915624A>G (hg19) chr1:g.97450068A>G (hg38)
PubMed: PMID:14523039 PMID:16007086 PMID:16115930
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.97450068A>G , CM000663.2:g.97450068A>G GRCh38
NC_000001.10:g.97915624A>G , CM000663.1:g.97915624A>G GRCh37
NC_000001.9:g.97688212A>G NCBI36
NG_008807.2:g.475992T>C , LRG_722:g.475992T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370192.8:c.1896T>C MANE Select ENSP00000359211.3:p.Phe632=
ENST00000370192.7:c.1896T>C ENSP00000359211.3:p.Phe632=
NM_000110.3:c.1896T>C , LRG_722t1:c.1896T>C NP_000101.2:p.Phe632=
XM_005270562.3:c.1680T>C XP_005270619.2:p.Phe560=
XM_006710397.2:c.1896T>C XP_006710460.1:p.Phe632=
XM_006710397.3:c.1896T>C XP_006710460.1:p.Phe632=
XM_017000507.1:c.1785T>C XP_016855996.1:p.Phe595=
XM_017000508.2:c.1401T>C XP_016855997.1:p.Phe467=
XM_017000509.2:c.1401T>C XP_016855998.1:p.Phe467=
XM_017000510.1:c.1401T>C XP_016855999.1:p.Phe467=
NM_000110.4:c.1896T>C MANE Select NP_000101.2:p.Phe632=
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