Canonical Allele Identifier: CA963238
Gene: DPYD HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.97450190G>A
GRCh37 chr1:g.97915746G>A
Revel Score:
ENST00000370192 (MANE Select) 0.817
gnomAD v2:
1:97915746 G / A
gnomAD v3:
1:97450190 G / A
gnomAD v4:
chr1-97450190-G-A
Joint Max Group AF 0.0006339 (EAS)
Genomes Max Group AF 0.00037995 (EAS)
Exomes Max Group AF 0.00060846 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.97450190G>A , CM000663.2:g.97450190G>A GRCh38
NC_000001.10:g.97915746G>A , CM000663.1:g.97915746G>A GRCh37
NC_000001.9:g.97688334G>A NCBI36
NG_008807.2:g.475870C>T , LRG_722:g.475870C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370192.8:c.1774C>T MANE Select ENSP00000359211.3:p.Arg592Trp
ENST00000370192.7:c.1774C>T ENSP00000359211.3:p.Arg592Trp
NM_000110.3:c.1774C>T , LRG_722t1:c.1774C>T NP_000101.2:p.Arg592Trp
XM_005270562.3:c.1558C>T XP_005270619.2:p.Arg520Trp
XM_006710397.2:c.1774C>T XP_006710460.1:p.Arg592Trp
XM_006710397.3:c.1774C>T XP_006710460.1:p.Arg592Trp
XM_017000507.1:c.1663C>T XP_016855996.1:p.Arg555Trp
XM_017000508.2:c.1279C>T XP_016855997.1:p.Arg427Trp
XM_017000509.2:c.1279C>T XP_016855998.1:p.Arg427Trp
XM_017000510.1:c.1279C>T XP_016855999.1:p.Arg427Trp
NM_000110.4:c.1774C>T MANE Select NP_000101.2:p.Arg592Trp
Search 100 bp 5'
Search 100 bp 3'