Canonical Allele Identifier: CA963582
Gene: DPYD HGNC NCBI

Linked Data

ClinVar Variation Id: 298300
dbSNP Id: rs1801266
gnomAD v2: 1-98157332-G-A
gnomAD v3: 1-97691776-G-A
gnomAD v4: 1-97691776-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.97691776G>A , CM000663.2:g.97691776G>A GRCh38
NC_000001.10:g.98157332G>A , CM000663.1:g.98157332G>A GRCh37
NC_000001.9:g.97929920G>A NCBI36
NG_008807.2:g.234284C>T , LRG_722:g.234284C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370192.8:c.703C>T MANE Select ENSP00000359211.3:p.Arg235Trp
ENST00000370192.7:c.703C>T ENSP00000359211.3:p.Arg235Trp
ENST00000474241.1:n.467C>T
NM_000110.3:c.703C>T , LRG_722t1:c.703C>T NP_000101.2:p.Arg235Trp
XM_005270562.3:c.703C>T XP_005270619.2:p.Arg235Trp
XM_006710397.2:c.703C>T XP_006710460.1:p.Arg235Trp
XM_006710397.3:c.703C>T XP_006710460.1:p.Arg235Trp
XM_017000507.1:c.592C>T XP_016855996.1:p.Arg198Trp
XM_017000508.2:c.208C>T XP_016855997.1:p.Arg70Trp
XM_017000509.2:c.208C>T XP_016855998.1:p.Arg70Trp
XM_017000510.1:c.208C>T XP_016855999.1:p.Arg70Trp
NM_000110.4:c.703C>T MANE Select NP_000101.2:p.Arg235Trp