Canonical Allele Identifier: CA341379258
Gene: DPYD HGNC NCBI

Linked Data

dbSNP Id: rs1661019350
gnomAD v3: 1-97691752-A-C
gnomAD v4: 1-97691752-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.97691752A>C , CM000663.2:g.97691752A>C GRCh38
NC_000001.10:g.98157308A>C , CM000663.1:g.98157308A>C GRCh37
NC_000001.9:g.97929896A>C NCBI36
NG_008807.2:g.234308T>G , LRG_722:g.234308T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370192.8:c.727T>G MANE Select ENSP00000359211.3:p.Phe243Val
ENST00000370192.7:c.727T>G ENSP00000359211.3:p.Phe243Val
ENST00000474241.1:n.491T>G
NM_000110.3:c.727T>G , LRG_722t1:c.727T>G NP_000101.2:p.Phe243Val
XM_005270562.3:c.727T>G XP_005270619.2:p.Phe243Val
XM_006710397.2:c.727T>G XP_006710460.1:p.Phe243Val
XM_006710397.3:c.727T>G XP_006710460.1:p.Phe243Val
XM_017000507.1:c.616T>G XP_016855996.1:p.Phe206Val
XM_017000508.2:c.232T>G XP_016855997.1:p.Phe78Val
XM_017000509.2:c.232T>G XP_016855998.1:p.Phe78Val
XM_017000510.1:c.232T>G XP_016855999.1:p.Phe78Val
NM_000110.4:c.727T>G MANE Select NP_000101.2:p.Phe243Val