Canonical Allele Identifier: CA228071
Gene: DPYD HGNC NCBI

Linked Data

ClinVar Variation Id: 100069
ClinVar RCV Id: RCV000086450 RCV001102225 RCV001804837
dbSNP Id: rs114096998
ExAC: 1:97544543 G / T
gnomAD v2: 1-97544543-G-T
gnomAD v3: 1-97078987-G-T
gnomAD v4: 1-97078987-G-T
MyVariant Identifiers: chr1:g.97544543G>T (hg19) chr1:g.97078987G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.97078987G>T , CM000663.2:g.97078987G>T GRCh38
NC_000001.10:g.97544543G>T , CM000663.1:g.97544543G>T GRCh37
NC_000001.9:g.97317131G>T NCBI36
NG_008807.2:g.847073C>A , LRG_722:g.847073C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370192.8:c.3067C>A MANE Select ENSP00000359211.3:p.Pro1023Thr
ENST00000370192.7:c.3067C>A ENSP00000359211.3:p.Pro1023Thr
NM_000110.3:c.3067C>A , LRG_722t1:c.3067C>A NP_000101.2:p.Pro1023Thr
XM_005270562.3:c.2851C>A XP_005270619.2:p.Pro951Thr
XM_017000507.1:c.2956C>A XP_016855996.1:p.Pro986Thr
XM_017000508.2:c.2572C>A XP_016855997.1:p.Pro858Thr
XM_017000509.2:c.2572C>A XP_016855998.1:p.Pro858Thr
XM_017000510.1:c.2572C>A XP_016855999.1:p.Pro858Thr
NM_000110.4:c.3067C>A MANE Select NP_000101.2:p.Pro1023Thr
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