Canonical Allele Identifier: CA963349
Gene: DPYD HGNC NCBI

Linked Data

dbSNP Id: rs199549923
gnomAD v2: 1-98015237-G-T
gnomAD v3: 1-97549681-G-T
gnomAD v4: 1-97549681-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.97549681G>T , CM000663.2:g.97549681G>T GRCh38
NC_000001.10:g.98015237G>T , CM000663.1:g.98015237G>T GRCh37
NC_000001.9:g.97787825G>T NCBI36
NG_008807.2:g.376379C>A , LRG_722:g.376379C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370192.8:c.1403C>A MANE Select ENSP00000359211.3:p.Thr468Asn
ENST00000370192.7:c.1403C>A ENSP00000359211.3:p.Thr468Asn
NM_000110.3:c.1403C>A , LRG_722t1:c.1403C>A NP_000101.2:p.Thr468Asn
XM_005270562.3:c.1403C>A XP_005270619.2:p.Thr468Asn
XM_006710397.2:c.1403C>A XP_006710460.1:p.Thr468Asn
XM_006710397.3:c.1403C>A XP_006710460.1:p.Thr468Asn
XM_017000507.1:c.1292C>A XP_016855996.1:p.Thr431Asn
XM_017000508.2:c.908C>A XP_016855997.1:p.Thr303Asn
XM_017000509.2:c.908C>A XP_016855998.1:p.Thr303Asn
XM_017000510.1:c.908C>A XP_016855999.1:p.Thr303Asn
NM_000110.4:c.1403C>A MANE Select NP_000101.2:p.Thr468Asn