Canonical Allele Identifier: CA341377534
Gene: DPYD HGNC NCBI

Linked Data

dbSNP Id: rs72549304
gnomAD v2: 1-98015165-G-C
gnomAD v4: 1-97549609-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.97549609G>C , CM000663.2:g.97549609G>C GRCh38
NC_000001.10:g.98015165G>C , CM000663.1:g.98015165G>C GRCh37
NC_000001.9:g.97787753G>C NCBI36
NG_008807.2:g.376451C>G , LRG_722:g.376451C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370192.8:c.1475C>G MANE Select ENSP00000359211.3:p.Ser492Trp
ENST00000370192.7:c.1475C>G ENSP00000359211.3:p.Ser492Trp
NM_000110.3:c.1475C>G , LRG_722t1:c.1475C>G NP_000101.2:p.Ser492Trp
XM_005270562.3:c.1475C>G XP_005270619.2:p.Ser492Trp
XM_006710397.2:c.1475C>G XP_006710460.1:p.Ser492Trp
XM_006710397.3:c.1475C>G XP_006710460.1:p.Ser492Trp
XM_017000507.1:c.1364C>G XP_016855996.1:p.Ser455Trp
XM_017000508.2:c.980C>G XP_016855997.1:p.Ser327Trp
XM_017000509.2:c.980C>G XP_016855998.1:p.Ser327Trp
XM_017000510.1:c.980C>G XP_016855999.1:p.Ser327Trp
NM_000110.4:c.1475C>G MANE Select NP_000101.2:p.Ser492Trp