Canonical Allele Identifier: CA341379190
Gene: DPYD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.97691722C>T , CM000663.2:g.97691722C>T GRCh38
NC_000001.10:g.98157278C>T , CM000663.1:g.98157278C>T GRCh37
NC_000001.9:g.97929866C>T NCBI36
NG_008807.2:g.234338G>A , LRG_722:g.234338G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370192.8:c.757G>A MANE Select ENSP00000359211.3:p.Val253Ile
ENST00000370192.7:c.757G>A ENSP00000359211.3:p.Val253Ile
ENST00000474241.1:n.521G>A
NM_000110.3:c.757G>A , LRG_722t1:c.757G>A NP_000101.2:p.Val253Ile
XM_005270562.3:c.757G>A XP_005270619.2:p.Val253Ile
XM_006710397.2:c.757G>A XP_006710460.1:p.Val253Ile
XM_006710397.3:c.757G>A XP_006710460.1:p.Val253Ile
XM_017000507.1:c.646G>A XP_016855996.1:p.Val216Ile
XM_017000508.2:c.262G>A XP_016855997.1:p.Val88Ile
XM_017000509.2:c.262G>A XP_016855998.1:p.Val88Ile
XM_017000510.1:c.262G>A XP_016855999.1:p.Val88Ile
NM_000110.4:c.757G>A MANE Select NP_000101.2:p.Val253Ile