Canonical Allele Identifier: CA963612
Gene: DPYD HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.97699430T>G
GRCh37 chr1:g.98164986T>G
Revel Score:
ENST00000370192 (MANE Select) 0.895
gnomAD v2:
1:98164986 T / G
gnomAD v3:
1:97699430 T / G
gnomAD v4:
chr1-97699430-T-G
Joint Max Group AF 0.00006477 (NFE)
Exomes Max Group AF 0.00006873 (NFE)
ClinVar Allele:
2834176
ClinVar RCV:
RCV003466229
ClinVar Variation:
2674903
dbSNP:
72549308
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.97699430T>G , CM000663.2:g.97699430T>G GRCh38
NC_000001.10:g.98164986T>G , CM000663.1:g.98164986T>G GRCh37
NC_000001.9:g.97937574T>G NCBI36
NG_008807.2:g.226630A>C , LRG_722:g.226630A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370192.8:c.601A>C MANE Select ENSP00000359211.3:p.Ser201Arg
ENST00000370192.7:c.601A>C ENSP00000359211.3:p.Ser201Arg
ENST00000474241.1:n.365A>C
NM_000110.3:c.601A>C , LRG_722t1:c.601A>C NP_000101.2:p.Ser201Arg
XM_005270562.3:c.601A>C XP_005270619.2:p.Ser201Arg
XM_006710397.2:c.601A>C XP_006710460.1:p.Ser201Arg
XM_006710397.3:c.601A>C XP_006710460.1:p.Ser201Arg
XM_017000507.1:c.490A>C XP_016855996.1:p.Ser164Arg
XM_017000508.2:c.106A>C XP_016855997.1:p.Ser36Arg
XM_017000509.2:c.106A>C XP_016855998.1:p.Ser36Arg
XM_017000510.1:c.106A>C XP_016855999.1:p.Ser36Arg
NM_000110.4:c.601A>C MANE Select NP_000101.2:p.Ser201Arg
Search 100 bp 5'
Search 100 bp 3'