Canonical Allele Identifier: CA228121
Gene: DPYD HGNC NCBI

Linked Data

ClinVar Variation Id: 100093
ClinVar RCV Id: RCV000086476 RCV001100346 RCV001293626
dbSNP Id: rs142619737
ExAC: 1:97981407 C / T
gnomAD v2: 1-97981407-C-T
gnomAD v3: 1-97515851-C-T
gnomAD v4: 1-97515851-C-T
COSMIC: COSM239642
MyVariant Identifiers: chr1:g.97981407C>T (hg19) chr1:g.97515851C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.97515851C>T , CM000663.2:g.97515851C>T GRCh38
NC_000001.10:g.97981407C>T , CM000663.1:g.97981407C>T GRCh37
NC_000001.9:g.97753995C>T NCBI36
NG_008807.2:g.410209G>A , LRG_722:g.410209G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370192.8:c.1615G>A MANE Select ENSP00000359211.3:p.Gly539Arg
ENST00000370192.7:c.1615G>A ENSP00000359211.3:p.Gly539Arg
NM_000110.3:c.1615G>A , LRG_722t1:c.1615G>A NP_000101.2:p.Gly539Arg
XM_005270562.3:c.1524+33709G>A XP_005270619.2:n.1524+33709G>A
XM_006710397.2:c.1615G>A XP_006710460.1:p.Gly539Arg
XM_006710397.3:c.1615G>A XP_006710460.1:p.Gly539Arg
XM_017000507.1:c.1504G>A XP_016855996.1:p.Gly502Arg
XM_017000508.2:c.1120G>A XP_016855997.1:p.Gly374Arg
XM_017000509.2:c.1120G>A XP_016855998.1:p.Gly374Arg
XM_017000510.1:c.1120G>A XP_016855999.1:p.Gly374Arg
NM_000110.4:c.1615G>A MANE Select NP_000101.2:p.Gly539Arg
Search 100 bp 5'
Search 100 bp 3'