Canonical Allele Identifier: CA963767
Gene: DPYD HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.97828139G>A
GRCh37 chr1:g.98293695G>A
gnomAD v2:
1:98293695 G / A
gnomAD v3:
1:97828139 G / A
gnomAD v4:
chr1-97828139-G-A
Joint Max Group AF 0.00001328 (AMR)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 0.00000742 (AMR)
ClinVar RCV:
RCV000409115
ClinVar Variation:
370660
dbSNP:
141597515
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.97828139G>A , CM000663.2:g.97828139G>A GRCh38
NC_000001.10:g.98293695G>A , CM000663.1:g.98293695G>A GRCh37
NC_000001.9:g.98066283G>A NCBI36
NG_008807.2:g.97921C>T , LRG_722:g.97921C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370192.8:c.208C>T MANE Select ENSP00000359211.3:p.Arg70Ter
ENST00000306031.5:c.208C>T ENSP00000307107.5:p.Arg70Ter
ENST00000370192.7:c.208C>T ENSP00000359211.3:p.Arg70Ter
NM_000110.3:c.208C>T , LRG_722t1:c.208C>T NP_000101.2:p.Arg70Ter
NM_001160301.1:c.208C>T , LRG_722t2:c.208C>T NP_001153773.1:p.Arg70Ter
XM_005270562.3:c.208C>T XP_005270619.2:p.Arg70Ter
XM_006710397.2:c.208C>T XP_006710460.1:p.Arg70Ter
XM_006710397.3:c.208C>T XP_006710460.1:p.Arg70Ter
XM_017000507.1:c.97C>T XP_016855996.1:p.Arg33Ter
XM_017000508.2:c.-503C>T XP_016855997.1:n.-503C>T
XM_017000509.2:c.-401C>T XP_016855998.1:n.-401C>T
XM_017000510.1:c.-401C>T XP_016855999.1:n.-401C>T
XR_001737014.1:n.345C>T
NM_000110.4:c.208C>T MANE Select NP_000101.2:p.Arg70Ter
Search 100 bp 5'
Search 100 bp 3'