Canonical Allele Identifier: CA16040796
Gene: DPYD HGNC NCBI

Linked Data

ClinVar Variation Id: 370923
ClinVar RCV Id: RCV000412376
dbSNP Id: rs769167857

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.97373560C>G , CM000663.2:g.97373560C>G GRCh38
NC_000001.10:g.97839116C>G , CM000663.1:g.97839116C>G GRCh37
NC_000001.9:g.97611704C>G NCBI36
NG_008807.2:g.552500G>C , LRG_722:g.552500G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370192.8:c.2058+1G>C MANE Select ENSP00000359211.3:n.2058+1G>C
ENST00000370192.7:c.2058+1G>C ENSP00000359211.3:n.2058+1G>C
NM_000110.3:c.2058+1G>C , LRG_722t1:c.2058+1G>C NP_000101.2:n.2058+1G>C
XM_005270562.3:c.1842+1G>C XP_005270619.2:n.1842+1G>C
XM_006710397.2:c.2058+1G>C XP_006710460.1:n.2058+1G>C
XR_947619.1:n.1125-1968C>G
XR_947620.1:n.1124+6359C>G
XR_947621.1:n.1125-1968C>G
XM_006710397.3:c.2058+1G>C XP_006710460.1:n.2058+1G>C
XM_017000507.1:c.1947+1G>C XP_016855996.1:n.1947+1G>C
XM_017000508.2:c.1563+1G>C XP_016855997.1:n.1563+1G>C
XM_017000509.2:c.1563+1G>C XP_016855998.1:n.1563+1G>C
XM_017000510.1:c.1563+1G>C XP_016855999.1:n.1563+1G>C
NM_000110.4:c.2058+1G>C MANE Select NP_000101.2:n.2058+1G>C