Canonical Allele Identifier: CA341375731
Gene: DPYD HGNC NCBI

Linked Data

gnomAD v4: 1-97382395-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.97382395C>T , CM000663.2:g.97382395C>T GRCh38
NC_000001.10:g.97847951C>T , CM000663.1:g.97847951C>T GRCh37
NC_000001.9:g.97620539C>T NCBI36
NG_008807.2:g.543665G>A , LRG_722:g.543665G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370192.8:c.1972G>A MANE Select ENSP00000359211.3:p.Glu658Lys
ENST00000370192.7:c.1972G>A ENSP00000359211.3:p.Glu658Lys
NM_000110.3:c.1972G>A , LRG_722t1:c.1972G>A NP_000101.2:p.Glu658Lys
XM_005270562.3:c.1756G>A XP_005270619.2:p.Glu586Lys
XM_006710397.2:c.1972G>A XP_006710460.1:p.Glu658Lys
XR_947619.1:n.1347-1239C>T
XR_947620.1:n.1125-1239C>T
XR_947621.1:n.1347-1239C>T
XM_006710397.3:c.1972G>A XP_006710460.1:p.Glu658Lys
XM_017000507.1:c.1861G>A XP_016855996.1:p.Glu621Lys
XM_017000508.2:c.1477G>A XP_016855997.1:p.Glu493Lys
XM_017000509.2:c.1477G>A XP_016855998.1:p.Glu493Lys
XM_017000510.1:c.1477G>A XP_016855999.1:p.Glu493Lys
XR_001737686.2:n.692-1239C>T
XR_001737687.1:n.692-1239C>T
XR_001737688.2:n.692-1239C>T
NM_000110.4:c.1972G>A MANE Select NP_000101.2:p.Glu658Lys