Canonical Allele Identifier: CA341377320
Gene: DPYD HGNC NCBI

Linked Data

dbSNP Id: rs775930761
gnomAD v2: 1-98015116-C-G
gnomAD v3: 1-97549560-C-G
gnomAD v4: 1-97549560-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.97549560C>G , CM000663.2:g.97549560C>G GRCh38
NC_000001.10:g.98015116C>G , CM000663.1:g.98015116C>G GRCh37
NC_000001.9:g.97787704C>G NCBI36
NG_008807.2:g.376500G>C , LRG_722:g.376500G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370192.8:c.1524G>C MANE Select ENSP00000359211.3:p.Gln508His
ENST00000370192.7:c.1524G>C ENSP00000359211.3:p.Gln508His
NM_000110.3:c.1524G>C , LRG_722t1:c.1524G>C NP_000101.2:p.Gln508His
XM_005270562.3:c.1524G>C XP_005270619.2:p.Gln508His
XM_006710397.2:c.1524G>C XP_006710460.1:p.Gln508His
XM_006710397.3:c.1524G>C XP_006710460.1:p.Gln508His
XM_017000507.1:c.1413G>C XP_016855996.1:p.Gln471His
XM_017000508.2:c.1029G>C XP_016855997.1:p.Gln343His
XM_017000509.2:c.1029G>C XP_016855998.1:p.Gln343His
XM_017000510.1:c.1029G>C XP_016855999.1:p.Gln343His
NM_000110.4:c.1524G>C MANE Select NP_000101.2:p.Gln508His