Canonical Allele Identifier: CA963459
Gene: DPYD HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.97593322C>T
GRCh37 chr1:g.98058878C>T
Revel Score:
ENST00000370192 (MANE Select) 0.549
gnomAD v2:
1:98058878 C / T
gnomAD v3:
1:97593322 C / T
gnomAD v4:
chr1-97593322-C-T
Joint Max Group AF 0.00002546 (AFR)
Genomes Max Group AF 0.00001914 (AFR)
Exomes Max Group AF 0.00000989 (AFR)
ClinVar Allele:
541411
ClinVar RCV:
RCV000665570
ClinVar Variation:
550741
dbSNP:
183385770
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.97593322C>T , CM000663.2:g.97593322C>T GRCh38
NC_000001.10:g.98058878C>T , CM000663.1:g.98058878C>T GRCh37
NC_000001.9:g.97831466C>T NCBI36
NG_008807.2:g.332738G>A , LRG_722:g.332738G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370192.8:c.1024G>A MANE Select ENSP00000359211.3:p.Asp342Asn
ENST00000370192.7:c.1024G>A ENSP00000359211.3:p.Asp342Asn
NM_000110.3:c.1024G>A , LRG_722t1:c.1024G>A NP_000101.2:p.Asp342Asn
XM_005270562.3:c.1024G>A XP_005270619.2:p.Asp342Asn
XM_006710397.2:c.1024G>A XP_006710460.1:p.Asp342Asn
XM_006710397.3:c.1024G>A XP_006710460.1:p.Asp342Asn
XM_017000507.1:c.913G>A XP_016855996.1:p.Asp305Asn
XM_017000508.2:c.529G>A XP_016855997.1:p.Asp177Asn
XM_017000509.2:c.529G>A XP_016855998.1:p.Asp177Asn
XM_017000510.1:c.529G>A XP_016855999.1:p.Asp177Asn
NM_000110.4:c.1024G>A MANE Select NP_000101.2:p.Asp342Asn
Search 100 bp 5'
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