Canonical Allele Identifier: CA27458647
Gene: DPYD HGNC NCBI

Linked Data

ClinVar Variation Id: 635267
ClinVar RCV Id: RCV000786704 RCV003479218
dbSNP Id: rs1801268
gnomAD v4: 1-97079071-C-A
MyVariant Identifiers: chr1:g.97544627C>A (hg19) chr1:g.97079071C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.97079071C>A , CM000663.2:g.97079071C>A GRCh38
NC_000001.10:g.97544627C>A , CM000663.1:g.97544627C>A GRCh37
NC_000001.9:g.97317215C>A NCBI36
NG_008807.2:g.846989G>T , LRG_722:g.846989G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370192.8:c.2983G>T MANE Select ENSP00000359211.3:p.Val995Phe
ENST00000370192.7:c.2983G>T ENSP00000359211.3:p.Val995Phe
NM_000110.3:c.2983G>T , LRG_722t1:c.2983G>T NP_000101.2:p.Val995Phe
XM_005270562.3:c.2767G>T XP_005270619.2:p.Val923Phe
XM_017000507.1:c.2872G>T XP_016855996.1:p.Val958Phe
XM_017000508.2:c.2488G>T XP_016855997.1:p.Val830Phe
XM_017000509.2:c.2488G>T XP_016855998.1:p.Val830Phe
XM_017000510.1:c.2488G>T XP_016855999.1:p.Val830Phe
NM_000110.4:c.2983G>T MANE Select NP_000101.2:p.Val995Phe
Search 100 bp 5'
Search 100 bp 3'