Canonical Allele Identifier: CA341379401
Gene: DPYD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.97828130G>T , CM000663.2:g.97828130G>T GRCh38
NC_000001.10:g.98293686G>T , CM000663.1:g.98293686G>T GRCh37
NC_000001.9:g.98066274G>T NCBI36
NG_008807.2:g.97930C>A , LRG_722:g.97930C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370192.8:c.217C>A MANE Select ENSP00000359211.3:p.Leu73Ile
ENST00000306031.5:c.217C>A ENSP00000307107.5:p.Leu73Ile
ENST00000370192.7:c.217C>A ENSP00000359211.3:p.Leu73Ile
NM_000110.3:c.217C>A , LRG_722t1:c.217C>A NP_000101.2:p.Leu73Ile
NM_001160301.1:c.217C>A , LRG_722t2:c.217C>A NP_001153773.1:p.Leu73Ile
XM_005270562.3:c.217C>A XP_005270619.2:p.Leu73Ile
XM_006710397.2:c.217C>A XP_006710460.1:p.Leu73Ile
XM_006710397.3:c.217C>A XP_006710460.1:p.Leu73Ile
XM_017000507.1:c.106C>A XP_016855996.1:p.Leu36Ile
XM_017000508.2:c.-494C>A XP_016855997.1:n.-494C>A
XM_017000509.2:c.-392C>A XP_016855998.1:n.-392C>A
XM_017000510.1:c.-392C>A XP_016855999.1:n.-392C>A
XR_001737014.1:n.354C>A
NM_000110.4:c.217C>A MANE Select NP_000101.2:p.Leu73Ile