Canonical Allele Identifier: CA341379414
Gene: DPYD HGNC NCBI

Linked Data

dbSNP Id: rs767818267
gnomAD v2: 1-98293694-C-A
gnomAD v4: 1-97828138-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.97828138C>A , CM000663.2:g.97828138C>A GRCh38
NC_000001.10:g.98293694C>A , CM000663.1:g.98293694C>A GRCh37
NC_000001.9:g.98066282C>A NCBI36
NG_008807.2:g.97922G>T , LRG_722:g.97922G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370192.8:c.209G>T MANE Select ENSP00000359211.3:p.Arg70Leu
ENST00000306031.5:c.209G>T ENSP00000307107.5:p.Arg70Leu
ENST00000370192.7:c.209G>T ENSP00000359211.3:p.Arg70Leu
NM_000110.3:c.209G>T , LRG_722t1:c.209G>T NP_000101.2:p.Arg70Leu
NM_001160301.1:c.209G>T , LRG_722t2:c.209G>T NP_001153773.1:p.Arg70Leu
XM_005270562.3:c.209G>T XP_005270619.2:p.Arg70Leu
XM_006710397.2:c.209G>T XP_006710460.1:p.Arg70Leu
XM_006710397.3:c.209G>T XP_006710460.1:p.Arg70Leu
XM_017000507.1:c.98G>T XP_016855996.1:p.Arg33Leu
XM_017000508.2:c.-502G>T XP_016855997.1:n.-502G>T
XM_017000509.2:c.-400G>T XP_016855998.1:n.-400G>T
XM_017000510.1:c.-400G>T XP_016855999.1:n.-400G>T
XR_001737014.1:n.346G>T
NM_000110.4:c.209G>T MANE Select NP_000101.2:p.Arg70Leu