Canonical Allele Identifier: CA341379214
Gene: DPYD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.97691733T>C , CM000663.2:g.97691733T>C GRCh38
NC_000001.10:g.98157289T>C , CM000663.1:g.98157289T>C GRCh37
NC_000001.9:g.97929877T>C NCBI36
NG_008807.2:g.234327A>G , LRG_722:g.234327A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370192.8:c.746A>G MANE Select ENSP00000359211.3:p.Lys249Arg
ENST00000370192.7:c.746A>G ENSP00000359211.3:p.Lys249Arg
ENST00000474241.1:n.510A>G
NM_000110.3:c.746A>G , LRG_722t1:c.746A>G NP_000101.2:p.Lys249Arg
XM_005270562.3:c.746A>G XP_005270619.2:p.Lys249Arg
XM_006710397.2:c.746A>G XP_006710460.1:p.Lys249Arg
XM_006710397.3:c.746A>G XP_006710460.1:p.Lys249Arg
XM_017000507.1:c.635A>G XP_016855996.1:p.Lys212Arg
XM_017000508.2:c.251A>G XP_016855997.1:p.Lys84Arg
XM_017000509.2:c.251A>G XP_016855998.1:p.Lys84Arg
XM_017000510.1:c.251A>G XP_016855999.1:p.Lys84Arg
NM_000110.4:c.746A>G MANE Select NP_000101.2:p.Lys249Arg