Canonical Allele Identifier: CA16040812
Gene: DPYD HGNC NCBI

Linked Data

ClinVar Variation Id: 371177
ClinVar RCV Id: RCV000409929
dbSNP Id: rs1057517065
gnomAD v4: 1-97691715-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.97691715A>G , CM000663.2:g.97691715A>G GRCh38
NC_000001.10:g.98157271A>G , CM000663.1:g.98157271A>G GRCh37
NC_000001.9:g.97929859A>G NCBI36
NG_008807.2:g.234345T>C , LRG_722:g.234345T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370192.8:c.762+2T>C MANE Select ENSP00000359211.3:n.762+2T>C
ENST00000370192.7:c.762+2T>C ENSP00000359211.3:n.762+2T>C
ENST00000474241.1:n.528T>C
NM_000110.3:c.762+2T>C , LRG_722t1:c.762+2T>C NP_000101.2:n.762+2T>C
XM_005270562.3:c.762+2T>C XP_005270619.2:n.762+2T>C
XM_006710397.2:c.762+2T>C XP_006710460.1:n.762+2T>C
XM_006710397.3:c.762+2T>C XP_006710460.1:n.762+2T>C
XM_017000507.1:c.651+2T>C XP_016855996.1:n.651+2T>C
XM_017000508.2:c.267+2T>C XP_016855997.1:n.267+2T>C
XM_017000509.2:c.267+2T>C XP_016855998.1:n.267+2T>C
XM_017000510.1:c.267+2T>C XP_016855999.1:n.267+2T>C
NM_000110.4:c.762+2T>C MANE Select NP_000101.2:n.762+2T>C