Canonical Allele Identifier: CA963579
Gene: DPYD HGNC NCBI

Linked Data

ClinVar Variation Id: 1804875
ClinVar RCV Id: RCV002470172
dbSNP Id: rs780025995
gnomAD v2: 1-98157325-G-A
gnomAD v3: 1-97691769-G-A
gnomAD v4: 1-97691769-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.97691769G>A , CM000663.2:g.97691769G>A GRCh38
NC_000001.10:g.98157325G>A , CM000663.1:g.98157325G>A GRCh37
NC_000001.9:g.97929913G>A NCBI36
NG_008807.2:g.234291C>T , LRG_722:g.234291C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370192.8:c.710C>T MANE Select ENSP00000359211.3:p.Pro237Leu
ENST00000370192.7:c.710C>T ENSP00000359211.3:p.Pro237Leu
ENST00000474241.1:n.474C>T
NM_000110.3:c.710C>T , LRG_722t1:c.710C>T NP_000101.2:p.Pro237Leu
XM_005270562.3:c.710C>T XP_005270619.2:p.Pro237Leu
XM_006710397.2:c.710C>T XP_006710460.1:p.Pro237Leu
XM_006710397.3:c.710C>T XP_006710460.1:p.Pro237Leu
XM_017000507.1:c.599C>T XP_016855996.1:p.Pro200Leu
XM_017000508.2:c.215C>T XP_016855997.1:p.Pro72Leu
XM_017000509.2:c.215C>T XP_016855998.1:p.Pro72Leu
XM_017000510.1:c.215C>T XP_016855999.1:p.Pro72Leu
NM_000110.4:c.710C>T MANE Select NP_000101.2:p.Pro237Leu