Canonical Allele Identifier: CA419148274
Gene: DPYD HGNC NCBI

Linked Data

dbSNP Id: rs1270328637
gnomAD v2: 1-98293693-T-G
gnomAD v4: 1-97828137-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.97828137T>G , CM000663.2:g.97828137T>G GRCh38
NC_000001.10:g.98293693T>G , CM000663.1:g.98293693T>G GRCh37
NC_000001.9:g.98066281T>G NCBI36
NG_008807.2:g.97923A>C , LRG_722:g.97923A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370192.8:c.210A>C MANE Select ENSP00000359211.3:p.Arg70=
ENST00000306031.5:c.210A>C ENSP00000307107.5:p.Arg70=
ENST00000370192.7:c.210A>C ENSP00000359211.3:p.Arg70=
NM_000110.3:c.210A>C , LRG_722t1:c.210A>C NP_000101.2:p.Arg70=
NM_001160301.1:c.210A>C , LRG_722t2:c.210A>C NP_001153773.1:p.Arg70=
XM_005270562.3:c.210A>C XP_005270619.2:p.Arg70=
XM_006710397.2:c.210A>C XP_006710460.1:p.Arg70=
XM_006710397.3:c.210A>C XP_006710460.1:p.Arg70=
XM_017000507.1:c.99A>C XP_016855996.1:p.Arg33=
XM_017000508.2:c.-501A>C XP_016855997.1:n.-501A>C
XM_017000509.2:c.-399A>C XP_016855998.1:n.-399A>C
XM_017000510.1:c.-399A>C XP_016855999.1:n.-399A>C
XR_001737014.1:n.347A>C
NM_000110.4:c.210A>C MANE Select NP_000101.2:p.Arg70=