Canonical Allele Identifier: CA341377463
Gene: DPYD HGNC NCBI

Linked Data

dbSNP Id: rs1382838576
gnomAD v2: 1-98015148-G-T
gnomAD v3: 1-97549592-G-T
gnomAD v4: 1-97549592-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.97549592G>T , CM000663.2:g.97549592G>T GRCh38
NC_000001.10:g.98015148G>T , CM000663.1:g.98015148G>T GRCh37
NC_000001.9:g.97787736G>T NCBI36
NG_008807.2:g.376468C>A , LRG_722:g.376468C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370192.8:c.1492C>A MANE Select ENSP00000359211.3:p.Gln498Lys
ENST00000370192.7:c.1492C>A ENSP00000359211.3:p.Gln498Lys
NM_000110.3:c.1492C>A , LRG_722t1:c.1492C>A NP_000101.2:p.Gln498Lys
XM_005270562.3:c.1492C>A XP_005270619.2:p.Gln498Lys
XM_006710397.2:c.1492C>A XP_006710460.1:p.Gln498Lys
XM_006710397.3:c.1492C>A XP_006710460.1:p.Gln498Lys
XM_017000507.1:c.1381C>A XP_016855996.1:p.Gln461Lys
XM_017000508.2:c.997C>A XP_016855997.1:p.Gln333Lys
XM_017000509.2:c.997C>A XP_016855998.1:p.Gln333Lys
XM_017000510.1:c.997C>A XP_016855999.1:p.Gln333Lys
NM_000110.4:c.1492C>A MANE Select NP_000101.2:p.Gln498Lys